A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632582



Internal ID7019392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:68055109..68082623hg38UCSC Ensembl
chr13:68629241..68656755hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3827515
hg1927515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14782630, essv14782635, essv14782638, essv14782631, essv14782633, essv14782636, essv14782637, essv14782640, essv14782639, essv14782632, essv14782634, essv14782629, essv14782627, essv14782626, essv14782628
SamplesHG00304, NA18964, HG01859, HG00632, HG00379, HG00338, HG00365, HG00290, HG00282, HG00321, HG00336, HG00278, NA18591, HG00339, HG00171
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632582
Frequency
Sample Size2504
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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