A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986343



Internal ID12628076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25323321..25515104hg38UCSC Ensembl
Innerchr22:25719288..25911071hg19UCSC Ensembl
Innerchr22:24049288..24241071hg18UCSC Ensembl
Innerchr22:24043842..24235625hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38191784
hg19191784
hg18191784
hg17191784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751952
Supporting Variants
SamplesBEC_538
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986343
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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