A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633068



Internal ID7019878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:88583426..88587878hg38UCSC Ensembl
Innerchr13:88583426..88587878hg38UCSC Ensembl
Outerchr13:88582926..88588378hg38UCSC Ensembl
chr13:89235681..89240133hg19UCSC Ensembl
Innerchr13:89235681..89240133hg19UCSC Ensembl
Outerchr13:89235181..89240633hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg384453
hg194453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14834944
SamplesNA18528
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633068
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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