A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214996



Internal ID4216812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78014218..78019545hg38UCSC Ensembl
Innerchr11:78014227..78019536hg38UCSC Ensembl
Outerchr11:78014209..78019554hg38UCSC Ensembl
chr11:77725264..77730591hg19UCSC Ensembl
Innerchr11:77725273..77730582hg19UCSC Ensembl
Outerchr11:77725255..77730600hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg385328
hg195328
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626891
Supporting Variants
SamplesNA19236
Known GenesKCTD14, NDUFC2-KCTD14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214996
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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