A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25785529



Internal ID19161109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:186250304..186455765hg38UCSC Ensembl
Innerchr2:187115031..187320492hg19UCSC Ensembl
Innerchr2:186823276..187028737hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38205462
hg19205462
hg18205462
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893520
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=20
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25785529
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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