A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688836



Internal ID15085784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:113613136..113614734hg38UCSC Ensembl
Innerchr13:113613734..113614136hg38UCSC Ensembl
Outerchr13:113612136..113615734hg38UCSC Ensembl
chr13:114267451..114269049hg19UCSC Ensembl
Innerchr13:114268049..114268451hg19UCSC Ensembl
Outerchr13:114266451..114270049hg19UCSC Ensembl
chr13:113315452..113317050hg18UCSC Ensembl
Innerchr13:113316452..113316050hg18UCSC Ensembl
Outerchr13:113314452..113318050hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3451053
Supporting Variants
SamplesNA19240
Known GenesTFDP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688836
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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