A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792226



Internal ID19175665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13097273..13139007hg38UCSC Ensembl
Innerchr21:14469594..14511328hg19UCSC Ensembl
Innerchr21:13391465..13433199hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3841735
hg1941735
hg1841735
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=22
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792226
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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