A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633575



Internal ID7020384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112175183..112182939hg38UCSC Ensembl
chr13:112829497..112837253hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg387757
hg197757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14899369, essv14899368, essv14899366, essv14899370, essv14899371, essv14899367
SamplesHG04211, HG01844, NA18605, HG02793, HG02700, NA19431
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633575
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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