A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722859



Internal ID10306495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62993423..62994128hg38UCSC Ensembl
Outerchr20:61624775..61625480hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6706959, essv6871401, essv6950088, essv6666313, essv6971836, essv6747492
SamplesSSM024, SSM028, SSM090, SSM029, SSM040, SSM055
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)esv2722859
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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