A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv349e214



Internal ID22756243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74840731..75028359hg38UCSC Ensembl
chr13:75414868..75602496hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38187629
hg19187629
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3632730, esv3632728
SamplesHG00141, HG01866
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv349e214
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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