A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987478



Internal ID12630878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36112644..36286211hg38UCSC Ensembl
Innerchr21:37484942..37658509hg19UCSC Ensembl
Innerchr21:36406812..36580379hg18UCSC Ensembl
Innerchr21:36406812..36580379hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38173568
hg19173568
hg18173568
hg17173568
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)essv6987478
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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