A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676798



Internal ID9596217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45141836..45143939hg38UCSC Ensembl
chr14:45611039..45613142hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg382104
hg192104
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6354928, essv5496054, essv5950290, essv5592418
SamplesNA19909, NA18489, NA18873, NA20322
Known GenesFANCM
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676798
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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