A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985553



Internal ID12626519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25323279..25511179hg38UCSC Ensembl
Innerchr22:25719246..25907146hg19UCSC Ensembl
Innerchr22:24049246..24237146hg18UCSC Ensembl
Innerchr22:24043800..24231700hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38187901
hg19187901
hg18187901
hg17187901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751955
Supporting Variants
SamplesBEC_387
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985553
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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