A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663525



Internal ID9929630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:60683240..60689845hg38UCSC Ensembl
chr14:61149958..61156563hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg386606
hg196606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5662280, essv6204228, essv5679055, essv5978089, essv5559218
SamplesNA19355, NA19819, NA19235, NA19390, NA19428
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663525
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer