A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990216



Internal ID12635011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18946466..19070779hg38UCSC Ensembl
Innerchr16:18957788..19082101hg19UCSC Ensembl
Innerchr16:18865289..18989602hg18UCSC Ensembl
Innerchr16:18865289..18989602hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38124314
hg19124314
hg18124314
hg17124314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34419
Supporting Variants
SamplesNA18994
Known GenesCOQ7, TMC7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990216
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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