A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788607



Internal ID19173724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29327804..29569068hg38UCSC Ensembl
Innerchr5:29327911..29569175hg19UCSC Ensembl
Innerchr5:29363668..29604932hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38241265
hg19241265
hg18241265
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894164
Supporting Variants
Samples
Known GenesLOC101929681
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=63
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788607
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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