A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720933



Internal ID10304569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:146194653..146195097hg38UCSC Ensembl
Outerchr2:146952221..146952665hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669617, essv6813513, essv6739169, essv6973081, essv6847649, essv6667098, essv6797883
SamplesSSM029, SSM031, SSM086, SSM072, SSM077, SSM052, SSM030
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)esv2720933
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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