A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978727



Internal ID12632335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39536384..39595544hg38UCSC Ensembl
Innerchr21:40908311..40967471hg19UCSC Ensembl
Innerchr21:39830181..39889341hg18UCSC Ensembl
Innerchr21:39830181..39889341hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3859161
hg1959161
hg1859161
hg1759161
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34779
Supporting Variants
SamplesNA12156
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978727
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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