A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792741



Internal ID18832466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20498374..20640701hg38UCSC Ensembl
Innerchr16:20509696..20652023hg19UCSC Ensembl
Innerchr16:20417197..20559524hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38142328
hg19142328
hg18142328
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892809
Supporting Variants
Samples
Known GenesACSM1, ACSM2B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=25
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792741
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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