A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675014



Internal ID9941119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76071813..76073181hg38UCSC Ensembl
chr14:76538156..76539524hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg381369
hg191369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5518989
SamplesHG00375
Known GenesIFT43
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675014
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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