A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987561



Internal ID12630133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:81059494..81273994hg38UCSC Ensembl
Innerchr16:81093099..81307599hg19UCSC Ensembl
Innerchr16:79650600..79865100hg18UCSC Ensembl
Innerchr16:79650600..79865100hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38214501
hg19214501
hg18214501
hg17214501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751615
Supporting Variants
SamplesBEC_691
Known GenesBCMO1, C16orf46, GCSH, PKD1L2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987561
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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