A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633444



Internal ID7020253
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv365e214
Supporting Variantsessv14888851, essv14888844, essv14888854, essv14888848, essv14888849, essv14888855, essv14888852, essv14888853, essv14888845, essv14888847, essv14888846, essv14888842, essv14888843, essv14888850
SamplesHG01485, HG01746, HG01098, NA07347, HG01510, HG00243, NA20775, HG01133, NA20521, HG01705, HG02304, HG01342, HG01395, HG01491
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633444
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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