A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984578



Internal ID12977220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25392579..25510379hg38UCSC Ensembl
Innerchr22:25788546..25906346hg19UCSC Ensembl
Innerchr22:24118546..24236346hg18UCSC Ensembl
Innerchr22:24113100..24230900hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38117801
hg19117801
hg18117801
hg17117801
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751957
Supporting Variants
SamplesBEC_720
Known GenesCRYBB2P1, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984578
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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