A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688756



Internal ID15014031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110873404..110874502hg38UCSC Ensembl
Innerchr13:110873502..110874404hg38UCSC Ensembl
Outerchr13:110872404..110875502hg38UCSC Ensembl
chr13:111525751..111526849hg19UCSC Ensembl
Innerchr13:111525849..111526751hg19UCSC Ensembl
Outerchr13:111524751..111527849hg19UCSC Ensembl
chr13:110323752..110324850hg18UCSC Ensembl
Innerchr13:110324752..110323850hg18UCSC Ensembl
Outerchr13:110322752..110325850hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3394634
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688756
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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