A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791939



Internal ID19173119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:29144865..30125340hg38UCSC Ensembl
Innerchr5:29144972..30125447hg19UCSC Ensembl
Innerchr5:29180729..30161204hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg38980476
hg19980476
hg18980476
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894162
Supporting Variants
Samples
Known GenesLOC101929681
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=227
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791939
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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