A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750885



Internal ID12984437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:19118962..19547435hg38UCSC Ensembl
Innerchr10:19407891..19836364hg19UCSC Ensembl
Innerchr10:19447897..19876370hg18UCSC Ensembl
Innerchr10:19447897..19876370hg17UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg38428474
hg19428474
hg18428474
hg17428474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20e55
Supporting Variantsessv6985725, essv6985724, essv6990133, essv6989496, essv6990132
SamplesSPC_38
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)esv2750885
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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