A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv97e199



Internal ID22757870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212907853..212915150hg38UCSC Ensembl
chr1:213081195..213088492hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg387298
hg197298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674345, esv2658892, esv2664262
SamplesHG00114, NA20761, HG01098, HG00242, HG01052, HG01079, HG00100, HG01188, NA20531, HG00257, HG01066, NA20532, HG00640, HG00737, NA20517, NA20507, HG01051, HG00261, NA20806, HG00138, HG01070, NA20586, HG01168, NA20769, HG00736, HG00158, HG01080, HG01067, HG00120, NA20518, HG00106, NA20819, HG00236, HG00156, HG00262, HG01072, HG00232, HG01198, HG00159, HG01048, HG00253, NA20515, HG00260, NA20818, HG00137, HG00133, HG00154, HG00149, NA20535, HG00731, HG01187, HG01171, NA20505, NA20809, HG00732, NA20810, NA20770, HG00740, HG01047, NA20525, HG01102, HG01073, HG00250, NA20538, HG01334, HG00152, HG00146, HG01204, HG01075, NA20526, HG00124, NA20522, HG00254, HG00119, HG01190, HG00265, NA20815, HG00734, HG00136, HG01174, NA20792, HG00237, NA20544, HG00116, NA20797, HG00256, NA20582, HG00123, NA20510, NA20807, NA20826, NA20528, HG00252, HG01082, NA20585, HG01097, HG01191, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv97e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss98
Observed Complex0
Frequencyn/a


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