A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732276



Internal ID10315912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:72441825..72442758hg38UCSC Ensembl
Outerchr6:73151527..73152460hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38934
hg19934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6757438, essv6762672, essv6974850, essv6761364, essv6957067, essv6765054, essv6865639, essv6939064, essv6849194
SamplesSSM059, SSM008, SSM029, SSM062, SSM026, SSM089, SSM086, SSM022, SSM063
Known Genes
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)esv2732276
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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