A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632728



Internal ID7019539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:74840731..75028359hg38UCSC Ensembl
Innerchr13:74840881..75028209hg38UCSC Ensembl
Outerchr13:74840581..75028509hg38UCSC Ensembl
chr13:75414868..75602496hg19UCSC Ensembl
Innerchr13:75415018..75602346hg19UCSC Ensembl
Outerchr13:75414718..75602646hg19UCSC 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 Variantsdgv349e214
Supporting Variantsessv14796636, essv14796635
SamplesHG00141, HG01866
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632728
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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