A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6710239



Internal ID10120338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22762277..22762402hg38UCSC Ensembl
Outerchr20:22742915..22743040hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722292
Supporting Variants
SamplesSSM041
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)essv6710239
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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