A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6354928



Internal ID9332331
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 StatusS
Merged Variantsesv2676798
Supporting Variants
SamplesNA18873
Known GenesFANCM
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6354928
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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