A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14702979



Internal ID1820107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39880820..39886880hg38UCSC Ensembl
Innerchr13:39880820..39886880hg38UCSC Ensembl
Outerchr13:39880557..39887147hg38UCSC Ensembl
chr13:40454957..40461017hg19UCSC Ensembl
Innerchr13:40454957..40461017hg19UCSC Ensembl
Outerchr13:40454694..40461284hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386061
hg196061
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631840
Supporting Variants
SamplesHG01695
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14702979
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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