A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737377



Internal ID10321013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:102700759..102701144hg38UCSC Ensembl
Outerchr8:103712987..103713372hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6944238, essv6701803, essv6958208, essv6948468, essv6970129, essv6939717
SamplesSSM024, SSM039, SSM023, SSM028, SSM026, SSM022
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)esv2737377
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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