A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792816



Internal ID19169125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75529848..75541512hg38UCSC Ensembl
Innerchr16:75563746..75575410hg19UCSC Ensembl
Innerchr16:74121247..74132911hg18UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3811665
hg1911665
hg1811665
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892889
Supporting Variants
Samples
Known GenesCHST5, TMEM231
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792816
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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