A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666588



Internal ID9932693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40854012..40885793hg38UCSC Ensembl
chr19:41359917..41391698hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3831782
hg1931782
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv643e199
Supporting Variantsessv6219505, essv5513803, essv6442268, essv6423800, essv5421991, essv6088560, essv5952207, essv5571831, essv5614006, essv6431031, essv5542459, essv5841155, essv5969332, essv6536385, essv5936755, essv6052088, essv5686591, essv6331701, essv6192527, essv5517072, essv6230558, essv6081055, essv5414897, essv5598347, essv5416258, essv6293321
SamplesNA19648, NA19058, HG01188, HG01389, NA12340, HG01456, NA19067, NA19396, NA19649, HG01365, NA19651, NA19383, NA19445, NA20533, HG00133, NA19776, NA11893, NA18856, HG01101, HG01334, HG00463, NA19834, NA19376, HG00707, NA20348, NA19779
Known GenesCYP2A7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666588
Frequency
Sample Size1151
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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