A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719988



Internal ID10303624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:43132044..43132919hg38UCSC Ensembl
Outerchr2:43359183..43360058hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38876
hg19876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6766766, essv6667057, essv6910367, essv6689544
SamplesSSM036, SSM064, SSM015, 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)esv2719988
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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