A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788303



Internal ID19180205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29351779..29440324hg38UCSC Ensembl
Innerchr5:29351886..29440431hg19UCSC Ensembl
Innerchr5:29387643..29476188hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3888546
hg1988546
hg1888546
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894163
Supporting Variants
Samples
Known GenesLOC101929681
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=14
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788303
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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