A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986579



Internal ID12635014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:18946466..19071899hg38UCSC Ensembl
Innerchr16:18957788..19083221hg19UCSC Ensembl
Innerchr16:18865289..18990722hg18UCSC Ensembl
Innerchr16:18865289..18990722hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38125434
hg19125434
hg18125434
hg17125434
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986579
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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