A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719872



Internal ID10303508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:31283514..31283721hg38UCSC Ensembl
Outerchr2:31506380..31506587hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704110, essv6739071, essv6777219, essv6950850, essv6937978
SamplesSSM067, SSM040, SSM022, SSM025, SSM052
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)esv2719872
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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