A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736549



Internal ID9970881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:6933382..6933663hg38UCSC Ensembl
Outerchr8:6790904..6791185hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1198e201
Supporting Variantsessv6866299, essv6958049, essv6795301, essv6964675, essv6850104, essv6818886, essv6845435
SamplesSSM071, SSM027, SSM026, SSM089, SSM086, SSM085, SSM078
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)esv2736549
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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