A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985932



Internal ID12984263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36104061..36250617hg38UCSC Ensembl
Innerchr21:37476359..37622915hg19UCSC Ensembl
Innerchr21:36398229..36544785hg18UCSC Ensembl
Innerchr21:36398229..36544785hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38146557
hg19146557
hg18146557
hg17146557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751928
Supporting Variants
SamplesSPC_86
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985932
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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