A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14676002



Internal ID996476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26484728..26493465hg38UCSC Ensembl
Innerchr13:26484728..26493465hg38UCSC Ensembl
Outerchr13:26484228..26493965hg38UCSC Ensembl
chr13:27058865..27067602hg19UCSC Ensembl
Innerchr13:27058865..27067602hg19UCSC Ensembl
Outerchr13:27058365..27068102hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg388738
hg198738
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631607
Supporting Variants
SamplesHG00622
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14676002
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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