A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990073



Internal ID12631349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18149609..19042823hg38UCSC Ensembl
Innerchr22:18632376..19030336hg19UCSC Ensembl
Innerchr22:17012376..17410336hg18UCSC Ensembl
Innerchr22:17006930..17404890hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38893215
hg19397961
hg18397961
hg17397961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751935
Supporting Variants
SamplesBEC_94
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990073
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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