title: DNA sample from patient with multiple congenital defects and a de novo inversion and deletions on chromosome 6
organism: Homo sapiens
description: "Patient described in: Eur J Med Genet 52, 27-30 (2009). Karyotype: 46,XX,der(6)(pter->p12.3::p12.1->p12.1::q14.3-> p12.1::p12.3->p12.2::q16.1->qter). SNParray (Infinium HumanHap300 Genotyping BeadChip, Illumina): arr del(6)(p23)(rs6458687x2,rs6458690x1,rs6905366x1,rs700002x2), del(6)(p12.2)(rs1342622x2,rs10498786x1,rs9463802x1,rs2063643x2) , del(6)(q14.3q16.1)(rs2324476x2,rs707016x1,rs2799633x1,rs2745650x2)
attributes.tag: ENA-FIRST-PUBLIC
attributes.value: 2011-11-30
attributes.tag: ENA-LAST-UPDATE
attributes.value: 2013-11-04
attributes.tag: External Id
attributes.value: SAMEA1094629
attributes.tag: INSDC center alias
attributes.value: UMCU
attributes.tag: INSDC center name
attributes.value: University Medical Center Utrecht
attributes.tag: INSDC first public
attributes.value: 2011-11-30T17:20:25Z
attributes.tag: INSDC last update
attributes.value: 2013-11-04T20:05:25Z
attributes.tag: INSDC status
attributes.value: public
attributes.tag: Submitter Id
attributes.value: patient5
attributes.tag: common name
attributes.value: human
attributes.tag: sample name
attributes.value: patient5