A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792103



Internal ID19176037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13097273..13130054hg38UCSC Ensembl
Innerchr21:14469594..14502375hg19UCSC Ensembl
Innerchr21:13391465..13424246hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3832782
hg1932782
hg1832782
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893362
Supporting Variants
Samples
Known GenesANKRD30BP2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792103
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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