A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632106



Internal ID7018916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52783774..52789180hg38UCSC Ensembl
Innerchr13:52783774..52789180hg38UCSC Ensembl
Outerchr13:52783483..52789437hg38UCSC Ensembl
chr13:53357909..53363315hg19UCSC Ensembl
Innerchr13:53357909..53363315hg19UCSC Ensembl
Outerchr13:53357618..53363572hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385407
hg195407
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14732343, essv14732340, essv14732345, essv14732342, essv14732341, essv14732346, essv14732344
SamplesHG01326, HG00306, NA12044, HG01440, HG01670, HG00110, HG01685
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632106
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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