A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987477



Internal ID12630869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36061467..36239594hg38UCSC Ensembl
Innerchr21:37433765..37611892hg19UCSC Ensembl
Innerchr21:36355635..36533762hg18UCSC Ensembl
Innerchr21:36355635..36533762hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38178128
hg19178128
hg18178128
hg17178128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751927
Supporting Variants
SamplesBEC_745
Known GenesCBR1, CBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987477
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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