A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660024



Internal ID9579443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:78014301..78019469hg38UCSC Ensembl
Outerchr11:78014144..78019622hg38UCSC Ensembl
Innerchr11:77725347..77730515hg19UCSC Ensembl
Outerchr11:77725190..77730668hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg385479
hg195479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5570588
SamplesNA19236
Known GenesKCTD14, NDUFC2-KCTD14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660024
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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