A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25786321



Internal ID19160353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70569125..70588059hg38UCSC Ensembl
Innerchr2:70796257..70815191hg19UCSC Ensembl
Innerchr2:70649765..70668699hg18UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3818935
hg1918935
hg1818935
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892625
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25786321
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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