A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984021



Internal ID12630863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36101232..36207632hg38UCSC Ensembl
Innerchr21:37473530..37579930hg19UCSC Ensembl
Innerchr21:36395400..36501800hg18UCSC Ensembl
Innerchr21:36395400..36501800hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38106401
hg19106401
hg18106401
hg17106401
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751927
Supporting Variants
SamplesBEC_745
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984021
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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