A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633541



Internal ID7020350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110088763..110111130hg38UCSC Ensembl
Innerchr13:110088913..110110980hg38UCSC Ensembl
Outerchr13:110088613..110111280hg38UCSC Ensembl
chr13:110741110..110763477hg19UCSC Ensembl
Innerchr13:110741260..110763327hg19UCSC Ensembl
Outerchr13:110740960..110763627hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3822368
hg1922368
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv371e214
Supporting Variantsessv14895841, essv14895847, essv14895840, essv14895843, essv14895842, essv14895844, essv14895846, essv14895845
SamplesHG01051, HG00641, HG01067, HG01673, HG01187, HG01190, HG01086, HG01105
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633541
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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