A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788344



Internal ID18831003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8771962..8795676hg38UCSC Ensembl
Innerchr16:8865819..8889533hg19UCSC Ensembl
Innerchr16:8773320..8797034hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3823715
hg1923715
hg1823715
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892787
Supporting Variants
Samples
Known GenesABAT, TMEM186
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788344
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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