A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv813e214



Internal ID22756707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36104817..36246729hg38UCSC Ensembl
chr21:37477115..37619027hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38141913
hg19141913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3646960, esv3646962
SamplesHG02277, HG00356, HG00349, HG00366, HG02133
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv813e214
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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