A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855682



Internal ID9906911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:81729033..81729278hg38UCSC Ensembl
Outerchr7:81358349..81358594hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734742, esv2734744
Supporting Variants
SamplesSSM087
Known GenesHGF
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)essv6855682
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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