A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5570588



Internal ID8547991
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 Flag1
Merged StatusS
Merged Variantsesv2660024
Supporting Variants
SamplesNA19236
Known GenesKCTD14, NDUFC2-KCTD14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5570588
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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