A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978728



Internal ID12632336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39536403..39589103hg38UCSC Ensembl
Innerchr21:40908330..40961030hg19UCSC Ensembl
Innerchr21:39830200..39882900hg18UCSC Ensembl
Innerchr21:39830200..39882900hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3852701
hg1952701
hg1852701
hg1752701
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)essv6978728
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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