A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632032



Internal ID7018842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48734820..48737906hg38UCSC Ensembl
Innerchr13:48734820..48737906hg38UCSC Ensembl
Outerchr13:48734757..48737982hg38UCSC Ensembl
chr13:49308956..49312042hg19UCSC Ensembl
Innerchr13:49308956..49312042hg19UCSC Ensembl
Outerchr13:49308893..49312118hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383087
hg193087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14716650, essv14716649
SamplesNA19446, NA19908
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632032
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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