A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688958



Internal ID15048921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42677516..42679214hg38UCSC Ensembl
Innerchr13:42678214..42678516hg38UCSC Ensembl
Outerchr13:42676516..42680214hg38UCSC Ensembl
chr13:43251652..43253350hg19UCSC Ensembl
Innerchr13:43252350..43252652hg19UCSC Ensembl
Outerchr13:43250652..43254350hg19UCSC Ensembl
chr13:42149652..42151350hg18UCSC Ensembl
Innerchr13:42150652..42150350hg18UCSC Ensembl
Outerchr13:42148652..42152350hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3372827
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688958
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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