A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988017



Internal ID12978781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25323279..25510379hg38UCSC Ensembl
Innerchr22:25719246..25906346hg19UCSC Ensembl
Innerchr22:24049246..24236346hg18UCSC Ensembl
Innerchr22:24043800..24230900hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38187101
hg19187101
hg18187101
hg17187101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34480
Supporting Variants
SamplesNA11995
Known GenesCRYBB2P1, LRP5L, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988017
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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