A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736933



Internal ID9971266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:41683269..41684536hg38UCSC Ensembl
Outerchr8:41540787..41542054hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6879052, essv6768026, essv6752099, essv6834351, essv6705647, essv6746378
SamplesSSM064, SSM093, SSM057, SSM040, SSM082, SSM055
Known GenesANK1
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)esv2736933
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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