A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986110



Internal ID12626707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19467389..19605778hg38UCSC Ensembl
Innerchr22:19454912..19593301hg19UCSC Ensembl
Innerchr22:17834912..17973301hg18UCSC Ensembl
Innerchr22:17829466..17967855hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38138390
hg19138390
hg18138390
hg17138390
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751940
Supporting Variants
SamplesBEC_404
Known GenesCDC45, CLDN5, LINC00895, UFD1L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986110
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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