A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632057



Internal ID7018867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49900295..49906003hg38UCSC Ensembl
Innerchr13:49900357..49905941hg38UCSC Ensembl
Outerchr13:49900233..49906065hg38UCSC Ensembl
chr13:50474431..50480139hg19UCSC Ensembl
Innerchr13:50474493..50480077hg19UCSC Ensembl
Outerchr13:50474369..50480201hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg385709
hg195709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14725769, essv14725757, essv14725778, essv14725773, essv14725767, essv14725776, essv14725777, essv14725761, essv14725763, essv14725779, essv14725771, essv14725766, essv14725760, essv14725764, essv14725770, essv14725762, essv14725780, essv14725759, essv14725765, essv14725774, essv14725758, essv14725775, essv14725768, essv14725772
SamplesHG03052, NA19378, NA19350, NA20321, HG03455, NA19377, NA18510, NA20320, NA18498, HG03195, HG02642, NA20355, HG02882, NA19921, HG03048, HG03078, HG01107, NA19380, HG03039, NA20334, HG02107, HG02013, NA18488, NA19214
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632057
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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