A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954230



Internal ID10058605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:45575390..45578648hg38UCSC Ensembl
Outerchr20:44204029..44207287hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg383259
hg193259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722448
Supporting Variants
SamplesSSM025
Known GenesWFDC8
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)essv6954230
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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