A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25781590



Internal ID19165265
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:194855927..194953800hg38UCSC Ensembl
Innerchr2:195720651..195818524hg19UCSC Ensembl
Innerchr2:195428896..195526769hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3897874
hg1997874
hg1897874
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893529
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25781590
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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