A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787991



Internal ID19169758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:106727587..106992625hg38UCSC Ensembl
Innerchr5:106063288..106328326hg19UCSC Ensembl
Innerchr5:106091187..106356225hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38265039
hg19265039
hg18265039
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890703
Supporting Variants
Samples
Known GenesLOC102467213
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=48
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787991
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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