A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733587



Internal ID10317223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:170214211..170217834hg38UCSC Ensembl
Outerchr6:170529444..170530390hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg383624
hg19947
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1056e201
Supporting Variantsessv6841416, essv6719599, essv6964016, essv6701285, essv6833936, essv6727283, essv6790691, essv6915211, essv6774745, essv6947982, essv6712006, essv6826580, essv6690637, essv6723406, essv6731045, essv6782385, essv6799040, essv6778364
SamplesSSM036, SSM027, SSM024, SSM045, SSM046, SSM039, SSM042, SSM084, SSM047, SSM067, SSM044, SSM066, SSM068, SSM072, SSM082, SSM016, SSM080, SSM070
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)esv2733587
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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