A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664531



Internal ID9930636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97757656..97758154hg38UCSC Ensembl
chr13:98409910..98410408hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg38499
hg19499
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6170016, essv5594989, essv6302952, essv5405648, essv5893933, essv5835105, essv5539913, essv6012767, essv6066524, essv6523525, essv5737714, essv6568844, essv6354225, essv5777499, essv5785234, essv6026015, essv5824314
SamplesNA19909, NA19399, NA19377, NA19404, NA19383, NA19921, NA19247, NA19403, NA18499, HG01107, NA19401, HG01190, NA19360, NA19472, NA18488, NA19346, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664531
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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