A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14888855



Internal ID6610630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:105301304..105304146hg38UCSC Ensembl
Innerchr13:105301322..105304128hg38UCSC Ensembl
Outerchr13:105301286..105304164hg38UCSC Ensembl
chr13:105953655..105956497hg19UCSC Ensembl
Innerchr13:105953673..105956479hg19UCSC Ensembl
Outerchr13:105953637..105956515hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg382843
hg192843
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633444
Supporting Variants
SamplesNA20775
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14888855
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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