A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6968222



Internal ID10076767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2722285..2722979hg38UCSC Ensembl
Outerchr2:2726057..2726751hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38695
hg19695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719432, esv2719429
Supporting Variants
SamplesSSM028
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)essv6968222
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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