A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672637



Internal ID15030998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48762514..48762528hg38UCSC Ensembl
Innerchr13:48762507..48762532hg38UCSC Ensembl
Outerchr13:48762496..48762546hg38UCSC Ensembl
chr13:49336650..49336664hg19UCSC Ensembl
Innerchr13:49336643..49336668hg19UCSC Ensembl
Outerchr13:49336632..49336682hg19UCSC Ensembl
chr13:48234651..48234665hg18UCSC Ensembl
Innerchr13:48234669..48234644hg18UCSC Ensembl
Outerchr13:48234633..48234683hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3408460
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672637
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer