A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982225



Internal ID12626711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:19435727..19779259hg38UCSC Ensembl
Innerchr22:19423250..19766782hg19UCSC Ensembl
Innerchr22:17803250..18146782hg18UCSC Ensembl
Innerchr22:17797804..18141336hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38343533
hg19343533
hg18343533
hg17343533
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751940
Supporting Variants
SamplesBEC_404
Known GenesC22orf39, CDC45, CLDN5, GP1BB, LINC00895, MRPL40, SEPT5, SEPT5-GP1BB, TBX1, UFD1L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982225
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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