A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990276



Internal ID12632341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39512944..39575679hg38UCSC Ensembl
Innerchr21:40884871..40947606hg19UCSC Ensembl
Innerchr21:39806741..39869476hg18UCSC Ensembl
Innerchr21:39806741..39869476hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3862736
hg1962736
hg1862736
hg1762736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34779
Supporting Variants
SamplesNA12156
Known GenesSH3BGR
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990276
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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