A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6839516



Internal ID9892549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23748751..23824971hg38UCSC Ensembl
Outerchr20:23729388..23805608hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3876221
hg1976221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722308, esv2722305, esv2722309
Supporting Variants
SamplesSSM083
Known GenesCST1, CST2
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)essv6839516
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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