A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720176



Internal ID10303812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70325342..70325665hg38UCSC Ensembl
Outerchr2:70552474..70552797hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946812, essv6847527, essv6748025, essv6756763, essv6785346, essv6942174, essv6710896, essv6933654, essv6704133, essv6714564, essv6671665, essv6787231, essv6769853, essv6929427, essv6950880, essv6759297, essv6804660, essv6874960, essv6819109
SamplesSSM059, SSM024, SSM065, SSM009, SSM074, SSM042, SSM023, SSM092, SSM021, SSM069, SSM061, SSM086, SSM040, SSM020, SSM005, SSM010, SSM025, SSM043, SSM056
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)esv2720176
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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