A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14895719



Internal ID4876039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:109820681..109829460hg38UCSC Ensembl
Innerchr13:109820681..109829460hg38UCSC Ensembl
Outerchr13:109820542..109829574hg38UCSC Ensembl
chr13:110473028..110481807hg19UCSC Ensembl
Innerchr13:110473028..110481807hg19UCSC Ensembl
Outerchr13:110472889..110481921hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg388780
hg198780
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633536
Supporting Variants
SamplesNA12347
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14895719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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