A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989208



Internal ID12982271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25396779..25515079hg38UCSC Ensembl
Innerchr22:25792746..25911046hg19UCSC Ensembl
Innerchr22:24122746..24241046hg18UCSC Ensembl
Innerchr22:24117300..24235600hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38118301
hg19118301
hg18118301
hg17118301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35068
Supporting Variants
SamplesNA19143
Known GenesCRYBB2P1, MIR6817
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989208
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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