A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658502



Internal ID9924607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59516723..59555020hg38UCSC Ensembl
chr14:59983441..60021738hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg3838298
hg1938298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5519626, essv6469596, essv6277686, essv5444568, essv5976535, essv6465531
SamplesHG00699, HG00422, HG00428, NA18548, HG00418, HG00614
Known GenesCCDC175
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658502
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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