A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750975



Internal ID12984527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:80713264..80808928hg38UCSC Ensembl
Innerchr10:82473020..82568684hg19UCSC Ensembl
Innerchr10:82463000..82558664hg18UCSC Ensembl
Innerchr10:82463000..82558664hg17UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg3895665
hg1995665
hg1895665
hg1795665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986147, essv6982332, essv6982333, essv6988521
SamplesBEC_424
Known Genes
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)esv2750975
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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