A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789455



Internal ID19171436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:236860143..236901923hg38UCSC Ensembl
Innerchr2:237768786..237810566hg19UCSC Ensembl
Innerchr2:237433525..237475305hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3841781
hg1941781
hg1841781
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893575
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=28
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789455
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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