A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798342



Internal ID18834669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84339110..84524557hg38UCSC Ensembl
Innerchr16:84372716..84558163hg19UCSC Ensembl
Innerchr16:82930217..83115664hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38185448
hg19185448
hg18185448
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892928
Supporting Variants
Samples
Known GenesATP2C2, TLDC1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=147
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798342
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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