A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796852



Internal ID19167555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:72024621..72043821hg38UCSC Ensembl
Innerchr2:72251751..72270951hg19UCSC Ensembl
Innerchr2:72105259..72124459hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3819201
hg1919201
hg1819201
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892648
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=6
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796852
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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