A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631839



Internal ID7018648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39858473..39865339hg38UCSC Ensembl
Innerchr13:39858473..39865339hg38UCSC Ensembl
Outerchr13:39858395..39865387hg38UCSC Ensembl
chr13:40432610..40439476hg19UCSC Ensembl
Innerchr13:40432610..40439476hg19UCSC Ensembl
Outerchr13:40432532..40439524hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg386867
hg196867
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14702977, essv14702972, essv14702973, essv14702975, essv14702978, essv14702974, essv14702976
SamplesHG02318, NA19020, HG03270, NA19391, NA19390, HG02970, HG03313
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631839
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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