A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751927



Internal ID12985479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36061467..36286211hg38UCSC Ensembl
Innerchr21:37433765..37658509hg19UCSC Ensembl
Innerchr21:36355635..36580379hg18UCSC Ensembl
Innerchr21:36355635..36580379hg17UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38224745
hg19224745
hg18224745
hg17224745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984022, essv6984023, essv6987477, essv6984021, essv6987478
SamplesBEC_745
Known GenesCBR1, CBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751927
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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