A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984333



Internal ID12630141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81081668..81259125hg38UCSC Ensembl
Innerchr16:81115273..81292730hg19UCSC Ensembl
Innerchr16:79672774..79850231hg18UCSC Ensembl
Innerchr16:79672774..79850231hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38177458
hg19177458
hg18177458
hg17177458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751615
Supporting Variants
SamplesBEC_691
Known GenesBCMO1, GCSH, PKD1L2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984333
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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