A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722826



Internal ID9957126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62698581..62699165hg38UCSC Ensembl
Outerchr20:61329933..61330517hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797035, essv6769208, essv6756247, essv6776601, essv6941355
SamplesSSM071, SSM064, SSM058, SSM066, SSM022
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)esv2722826
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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