A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979353



Internal ID12633356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25211818..25519689hg38UCSC Ensembl
Innerchr22:25607785..25915656hg19UCSC Ensembl
Innerchr22:23937785..24245656hg18UCSC Ensembl
Innerchr22:23932339..24240210hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38307872
hg19307872
hg18307872
hg17307872
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34375
Supporting Variants
SamplesNA18532
Known GenesCRYBB2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979353
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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