A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv396e199



Internal ID18982450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49704199..49707391hg38UCSC Ensembl
chr14:50170917..50174109hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg383193
hg193193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2678500, esv2668185
SamplesHG00656, HG00702
Known GenesKLHDC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv396e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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