A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722389



Internal ID10306025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:37487314..37488335hg38UCSC Ensembl
Outerchr20:36115716..36116737hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381022
hg191022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6780383, essv6882968, essv6772999, essv6967275, essv6916980, essv6928700, essv6776563
SamplesSSM027, SSM065, SSM019, SSM094, SSM067, SSM066, SSM016
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)esv2722389
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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