A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751940



Internal ID12638806
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 StatusM
Merged Variants
Supporting Variantsessv6986111, essv6982225, essv6982226, essv6982227, essv6986110
SamplesBEC_404
Known GenesC22orf39, CDC45, CLDN5, GP1BB, LINC00895, MRPL40, SEPT5, SEPT5-GP1BB, TBX1, UFD1L
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751940
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer