A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401034



Internal ID15247997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113563522..113563574hg38UCSC Ensembl
Innerchr13:113563524..113563572hg38UCSC Ensembl
Outerchr13:113563472..113563624hg38UCSC Ensembl
chr13:114217837..114217889hg19UCSC Ensembl
Innerchr13:114217839..114217887hg19UCSC Ensembl
Outerchr13:114217787..114217939hg19UCSC Ensembl
chr13:113265838..113265890hg18UCSC Ensembl
Innerchr13:113265888..113265840hg18UCSC Ensembl
Outerchr13:113265788..113265940hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8740780
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401034
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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