A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982156



Internal ID12626602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21608949..21726093hg38UCSC Ensembl
Innerchr16:21620270..21737414hg19UCSC Ensembl
Innerchr16:21527771..21644915hg18UCSC Ensembl
Innerchr16:21527771..21644915hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38117145
hg19117145
hg18117145
hg17117145
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751551
Supporting Variants
SamplesBEC_397
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982156
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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