A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14198462



Internal ID4200278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67738871..67968248hg38UCSC Ensembl
Innerchr11:67739371..67967748hg38UCSC Ensembl
Outerchr11:67737871..67969248hg38UCSC Ensembl
chr11:67506342..67735719hg19UCSC Ensembl
Innerchr11:67506842..67735219hg19UCSC Ensembl
Outerchr11:67505342..67736719hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38229378
hg19229378
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626720
Supporting Variants
SamplesHG00531
Known GenesFAM86C2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14198462
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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