A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808647



Internal ID13297397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46583988..46584084hg38UCSC Ensembl
Innerchr13:46583987..46584085hg38UCSC Ensembl
Outerchr13:46583878..46584204hg38UCSC Ensembl
chr13:47158123..47158219hg19UCSC Ensembl
Innerchr13:47158122..47158220hg19UCSC Ensembl
Outerchr13:47158013..47158339hg19UCSC Ensembl
chr13:46056124..46056220hg18UCSC Ensembl
Innerchr13:46056221..46056123hg18UCSC Ensembl
Outerchr13:46056014..46056340hg18UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3897
hg1997
hg1897
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447922
Supporting Variants
SamplesNA12878
Known GenesLRCH1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808647
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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