A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751022



Internal ID12637888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:31041408..31526385hg38UCSC Ensembl
Innerchr11:31062955..31547932hg19UCSC Ensembl
Innerchr11:31019531..31504508hg18UCSC Ensembl
Innerchr11:31019531..31504508hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38484978
hg19484978
hg18484978
hg17484978
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985902, essv6990166, essv6985901
SamplesSPC_83
Known GenesDCDC1, DNAJC24, ELP4, IMMP1L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751022
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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