A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25790661



Internal ID19167940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:41760723..41783028hg38UCSC Ensembl
Innerchr21:43180883..43203188hg19UCSC Ensembl
Innerchr21:42053952..42076257hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3822306
hg1922306
hg1822306
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893417
Supporting Variants
Samples
Known GenesRIPK4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25790661
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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