A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985363



Internal ID12983200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25410979..25519879hg38UCSC Ensembl
Innerchr22:25806946..25915846hg19UCSC Ensembl
Innerchr22:24136946..24245846hg18UCSC Ensembl
Innerchr22:24131500..24240400hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38108901
hg19108901
hg18108901
hg17108901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751961
Supporting Variants
SamplesSPC_153
Known GenesCRYBB2P1, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985363
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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