A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985552



Internal ID12626518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25272779..25519879hg38UCSC Ensembl
Innerchr22:25668746..25915846hg19UCSC Ensembl
Innerchr22:23998746..24245846hg18UCSC Ensembl
Innerchr22:23993300..24240400hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38247101
hg19247101
hg18247101
hg17247101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751955
Supporting Variants
SamplesBEC_387
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985552
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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