A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722357



Internal ID10305993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34889203..34889467hg38UCSC Ensembl
Outerchr20:33477006..33477270hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840932, essv6692364, essv6756224, essv6758805, essv6774153, essv6772996, essv6747465, essv6846622, essv6813310, essv6780243, essv6820727, essv6735752, essv6946385
SamplesSSM059, SSM036, SSM008, SSM065, SSM009, SSM058, SSM003, SSM001, SSM085, SSM078, SSM010, SSM055, SSM049
Known GenesACSS2
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)esv2722357
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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