A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791476



Internal ID19171888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:219916285..220012581hg38UCSC Ensembl
Innerchr2:220781006..220877302hg19UCSC Ensembl
Innerchr2:220489250..220585546hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3896297
hg1996297
hg1896297
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893558
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791476
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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