A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688773



Internal ID15046887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112217137..112217835hg38UCSC Ensembl
Innerchr13:112217136..112217836hg38UCSC Ensembl
Outerchr13:112216137..112218835hg38UCSC Ensembl
chr13:112871451..112872149hg19UCSC Ensembl
Innerchr13:112871450..112872150hg19UCSC Ensembl
Outerchr13:112870451..112873149hg19UCSC Ensembl
chr13:111919452..111920150hg18UCSC Ensembl
Innerchr13:111920151..111919451hg18UCSC Ensembl
Outerchr13:111918452..111921150hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38699
hg19699
hg18699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450183
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688773
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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