A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752306



Internal ID12639172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:46431..499586hg38UCSC Ensembl
Innerchr9:46431..499586hg19UCSC Ensembl
Innerchr9:36431..489586hg18UCSC Ensembl
Innerchr9:36431..489586hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38453156
hg19453156
hg18453156
hg17453156
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv254e55
Supporting Variantsessv6985399, essv6980755, essv6985398, essv6990524, essv6980756
SamplesBEC_131
Known GenesC9orf66, CBWD1, DOCK8, FOXD4, KANK1
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)esv2752306
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer