A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14735001



Internal ID4270862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:55054248..55061585hg38UCSC Ensembl
Innerchr13:55054298..55061535hg38UCSC Ensembl
Outerchr13:55054198..55061635hg38UCSC Ensembl
chr13:55628383..55635720hg19UCSC Ensembl
Innerchr13:55628433..55635670hg19UCSC Ensembl
Outerchr13:55628333..55635770hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg387338
hg197338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632146
Supporting Variants
SamplesHG03836
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14735001
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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