A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6865562



Internal ID10262488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32480776..32568460hg38UCSC Ensembl
Outerchr6:32448553..32536237hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3887685
hg1987685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731844, esv2731839, esv2731841, esv2731842, esv2731843, esv2731835, esv2731837, esv2731845, esv2731836, esv2731834, esv2731838
Supporting Variants
SamplesSSM089
Known GenesHLA-DRB5, HLA-DRB6
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6865562
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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