A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14732720



Internal ID3841020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:53532819..53541795hg38UCSC Ensembl
Innerchr13:53532826..53541788hg38UCSC Ensembl
Outerchr13:53532812..53541802hg38UCSC Ensembl
chr13:54106954..54115930hg19UCSC Ensembl
Innerchr13:54106961..54115923hg19UCSC Ensembl
Outerchr13:54106947..54115937hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg388977
hg198977
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632117
Supporting Variants
SamplesHG03476
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14732720
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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