A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721836



Internal ID10305472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239537946..239538716hg38UCSC Ensembl
Outerchr2:240459640..240460410hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38771
hg19771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797975, essv6752997, essv6679648, essv6973272, essv6968478, essv6756869, essv6954128
SamplesSSM059, SSM008, SSM028, SSM029, SSM033, SSM072, SSM004
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)esv2721836
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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