A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666690



Internal ID9932795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76015360..76017857hg38UCSC Ensembl
Outerchr13:76015301..76017907hg38UCSC Ensembl
Innerchr13:76589496..76591993hg19UCSC Ensembl
Outerchr13:76589437..76592043hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg382607
hg192607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6044048, essv6387045
SamplesNA18940, NA19007
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666690
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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