A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985085



Internal ID12631348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18907733..19016433hg38UCSC Ensembl
Innerchr22:18895246..19003946hg19UCSC Ensembl
Innerchr22:17275246..17383946hg18UCSC Ensembl
Innerchr22:17269800..17378500hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38108701
hg19108701
hg18108701
hg17108701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751935
Supporting Variants
SamplesBEC_94
Known GenesDGCR5, DGCR6, PRODH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985085
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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