A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6909050



Internal ID10018393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:72382589..72382834hg38UCSC Ensembl
Outerchr13:72956727..72956972hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38246
hg19246
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747629
Supporting Variants
SamplesSSM014
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)essv6909050
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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