A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892812



Internal ID18836946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21587804..21726454hg38UCSC Ensembl
Outerchr16:21563897..21736369hg38UCSC Ensembl
Innerchr16:21599125..21737775hg19UCSC Ensembl
Outerchr16:21575218..21747690hg19UCSC Ensembl
Innerchr16:21506626..21645276hg18UCSC Ensembl
Outerchr16:21482719..21655191hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38172473
hg19172473
hg18172473
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789568, essv25792768, essv25786067, essv25782385, essv25788063, essv25800250, essv25796275
Samples
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892812
Frequency
Sample Size3017
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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