A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751935



Internal ID12638801
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 StatusM
Merged Variants
Supporting Variantsessv6990073, essv6985085, essv6985084
SamplesBEC_94
Known GenesDGCR10, DGCR2, DGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
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)esv2751935
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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