A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3402311



Internal ID14902587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:41589116..41590914hg38UCSC Ensembl
Innerchr13:41589914..41590116hg38UCSC Ensembl
Outerchr13:41588116..41591914hg38UCSC Ensembl
chr13:42163252..42165050hg19UCSC Ensembl
Innerchr13:42164050..42164252hg19UCSC Ensembl
Outerchr13:42162252..42166050hg19UCSC Ensembl
chr13:41061252..41063050hg18UCSC Ensembl
Innerchr13:41062252..41062050hg18UCSC Ensembl
Outerchr13:41060252..41064050hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8688952
SamplesNA19239
Known GenesVWA8
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3402311
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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