A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982001



Internal ID12627583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25286779..25491179hg38UCSC Ensembl
Innerchr22:25682746..25887146hg19UCSC Ensembl
Innerchr22:24012746..24217146hg18UCSC Ensembl
Innerchr22:24007300..24211700hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38204401
hg19204401
hg18204401
hg17204401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751948
Supporting Variants
SamplesBEC_511
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982001
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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