A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731546



Internal ID9965864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:8337427..8341273hg38UCSC Ensembl
Outerchr6:8337660..8341506hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg383847
hg193847
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6886940, essv6667497, essv6754450, essv6739896, essv6786289, essv6808311, essv6680307, essv6844813, essv6974637, essv6670991, essv6700957, essv6818099, essv6926698
SamplesSSM075, SSM039, SSM058, SSM069, SSM029, SSM096, SSM019, SSM031, SSM033, SSM085, SSM078, SSM052, SSM030
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)esv2731546
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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