A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893427



Internal ID18837561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17214813..17405801hg38UCSC Ensembl
Outerchr22:17214813..17405801hg38UCSC Ensembl
Innerchr22:17695703..17885697hg19UCSC Ensembl
Outerchr22:17695703..17885697hg19UCSC Ensembl
Innerchr22:16075703..16265697hg18UCSC Ensembl
Outerchr22:16075703..16265697hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38190989
hg19189995
hg18189995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792672
Samples
Known GenesCECR1, CECR3
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893427
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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