A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14791400



Internal ID3876126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72133896..72135005hg38UCSC Ensembl
Innerchr13:72133964..72134955hg38UCSC Ensembl
Outerchr13:72133803..72135098hg38UCSC Ensembl
chr13:72708034..72709143hg19UCSC Ensembl
Innerchr13:72708102..72709093hg19UCSC Ensembl
Outerchr13:72707941..72709236hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381110
hg191110
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632687
Supporting Variants
SamplesHG03518
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14791400
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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