A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673492



Internal ID9939597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:118782673..118783306hg38UCSC Ensembl
Outerchr11:118782634..118783363hg38UCSC Ensembl
Innerchr11:118653382..118654015hg19UCSC Ensembl
Outerchr11:118653343..118654072hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5445515, essv6516603, essv5903648, essv6544066, essv5496552, essv6073445, essv6398406, essv5400245, essv5530731, essv5732441, essv5719543, essv6510335
SamplesNA20808, NA12413, NA20819, NA20775, NA11932, NA20811, NA20760, NA12829, NA12775, NA20804, NA20785, NA20826
Known GenesDDX6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673492
Frequency
Sample Size1151
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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