A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983236



Internal ID12628342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21527943..21726093hg38UCSC Ensembl
Innerchr16:21539264..21737414hg19UCSC Ensembl
Innerchr16:21446765..21644915hg18UCSC Ensembl
Innerchr16:21446765..21644915hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38198151
hg19198151
hg18198151
hg17198151
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751552
Supporting Variants
SamplesBEC_558
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983236
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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