A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv542e199



Internal ID22758315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28692260..28693154hg38UCSC Ensembl
chr17:27019278..27020172hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38895
hg19895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2676161, esv2677614
SamplesHG01060, NA19055, NA19909, HG00559, NA18980, HG01079, HG00640, HG00566, NA18606, NA19920, NA19067, HG01140, HG00138, HG01070, HG00589, HG01351, HG00689, HG00173, NA18982, NA18635, NA18558, NA18582, NA19384, HG00139, HG00120, HG00534, NA19075, HG00422, HG00160, NA18520, HG00338, HG00178, HG00464, HG00188, HG00731, NA19082, HG00328, NA19462, NA19081, HG00708, NA18566, HG01073, NA19461, NA11893, NA19453, HG00140, NA19009, NA18634, HG01107, NA18546, HG00357, HG00734, NA18941, NA19010, NA19835, HG00473, HG00607, HG01489, HG00269, HG00111, NA20758, HG01125, NA18612
Known GenesSUPT6H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv542e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss63
Observed Complex0
Frequencyn/a


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