A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672583



Internal ID13710026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:32132237..32132276hg38UCSC Ensembl
Innerchr13:32132253..32132260hg38UCSC Ensembl
Outerchr13:32132221..32132292hg38UCSC Ensembl
chr13:32706374..32706413hg19UCSC Ensembl
Innerchr13:32706390..32706397hg19UCSC Ensembl
Outerchr13:32706358..32706429hg19UCSC Ensembl
chr13:31604374..31604413hg18UCSC Ensembl
Innerchr13:31604390..31604397hg18UCSC Ensembl
Outerchr13:31604358..31604429hg18UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413949
Supporting Variants
SamplesNA12891
Known GenesFRY
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672583
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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