A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985202



Internal ID12636254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25272817..25557884hg38UCSC Ensembl
Innerchr22:25668784..25953851hg19UCSC Ensembl
Innerchr22:23998784..24283851hg18UCSC Ensembl
Innerchr22:23993338..24278405hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38285068
hg19285068
hg18285068
hg17285068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751956
Supporting Variants
SamplesSPC_124
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985202
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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