A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710264



Internal ID5469575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43995290..43995735hg38UCSC Ensembl
Innerchr13:43995293..43995732hg38UCSC Ensembl
Outerchr13:43995287..43995738hg38UCSC Ensembl
chr13:44569426..44569871hg19UCSC Ensembl
Innerchr13:44569429..44569868hg19UCSC Ensembl
Outerchr13:44569423..44569874hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631929
Supporting Variants
SamplesNA18973
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710264
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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