A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988327



Internal ID12635512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25254681..25523810hg38UCSC Ensembl
Innerchr22:25650648..25919777hg19UCSC Ensembl
Innerchr22:23980648..24249777hg18UCSC Ensembl
Innerchr22:23975202..24244331hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38269130
hg19269130
hg18269130
hg17269130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34331
Supporting Variants
SamplesNA19139
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988327
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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