A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736756



Internal ID9971088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23256774..23257047hg38UCSC Ensembl
Outerchr8:23114287..23114560hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975918, essv6743573, essv6787072
SamplesSSM053, SSM029, SSM069
Known GenesCHMP7
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)esv2736756
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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