A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14793553



Internal ID6703222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72319453..72324308hg38UCSC Ensembl
Innerchr13:72319453..72324308hg38UCSC Ensembl
Outerchr13:72319177..72324641hg38UCSC Ensembl
chr13:72893591..72898446hg19UCSC Ensembl
Innerchr13:72893591..72898446hg19UCSC Ensembl
Outerchr13:72893315..72898779hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg384856
hg194856
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632694
Supporting Variants
SamplesNA20828
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14793553
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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