A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984643



Internal ID12636596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25272817..25523810hg38UCSC Ensembl
Innerchr22:25668784..25919777hg19UCSC Ensembl
Innerchr22:23998784..24249777hg18UCSC Ensembl
Innerchr22:23993338..24244331hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38250994
hg19250994
hg18250994
hg17250994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751942
Supporting Variants
SamplesSPC_162
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984643
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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