A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736982



Internal ID10320618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:49276731..49276992hg38UCSC Ensembl
Outerchr8:50189290..50189551hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787100
SamplesSSM069
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)esv2736982
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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