A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34300



Internal ID12643653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:5005938..5322534hg38UCSC Ensembl
Innerchr16:5055939..5372535hg19UCSC Ensembl
Innerchr16:4995940..5312536hg18UCSC Ensembl
Innerchr16:4995940..5312536hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38316597
hg19316597
hg18316597
hg17316597
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6979878, essv6979880, essv6979877, essv6990419, essv6979879
SamplesNA18855
Known GenesALG1, C16orf89, FAM86A, NAGPA, NAGPA-AS1, SEC14L5
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)esv34300
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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