A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791122



Internal ID19166969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29351106..29574668hg38UCSC Ensembl
Innerchr5:29351213..29574775hg19UCSC Ensembl
Innerchr5:29386970..29610532hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38223563
hg19223563
hg18223563
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=61
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791122
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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