A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987429



Internal ID12629303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25272817..25519883hg38UCSC Ensembl
Innerchr22:25668784..25915850hg19UCSC Ensembl
Innerchr22:23998784..24245850hg18UCSC Ensembl
Innerchr22:23993338..24240404hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38247067
hg19247067
hg18247067
hg17247067
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751954
Supporting Variants
SamplesBEC_630
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987429
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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