A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984023



Internal ID12630865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36112632..36232632hg38UCSC Ensembl
Innerchr21:37484930..37604930hg19UCSC Ensembl
Innerchr21:36406800..36526800hg18UCSC Ensembl
Innerchr21:36406800..36526800hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38120001
hg19120001
hg18120001
hg17120001
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984023
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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