A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6684572



Internal ID10098738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:91520161..91528622hg38UCSC Ensembl
Outerchr8:92532389..92540850hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg388462
hg198462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737292
Supporting Variants
SamplesSSM034
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)essv6684572
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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