A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751615



Internal ID12638481
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 StatusM
Merged Variants
Supporting Variantsessv6987561, essv6984334, essv6984333, essv6987562
SamplesBEC_691
Known GenesBCMO1, C16orf46, GCSH, PKD1L2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751615
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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