A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722914



Internal ID10306550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63364540..63364980hg38UCSC Ensembl
Outerchr20:61995892..61996332hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38441
hg19441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925261, essv6780418, essv6725441, essv6703466
SamplesSSM045, SSM039, SSM018, SSM067
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)esv2722914
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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