A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736759



Internal ID10320395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23590229..23590421hg38UCSC Ensembl
Outerchr8:23447742..23447934hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38193
hg19193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731478, essv6672058, essv6952564, essv6720061, essv6933685, essv6850134
SamplesSSM047, SSM003, SSM031, SSM044, SSM086, SSM025
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)esv2736759
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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