A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678403



Internal ID9944508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67662845..67663616hg38UCSC Ensembl
chr14:68129562..68130333hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38772
hg19772
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5493780, essv5706311, essv6146487, essv6258924, essv5933079, essv5739251, essv6563961, essv6172138
SamplesHG00173, HG00277, HG01067, HG01384, HG00126, HG01148, NA19732, NA19679
Known GenesVTI1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678403
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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