A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1183e199



Internal ID20124485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6081264..6105811hg38UCSC Ensembl
chr7:6120895..6145442hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3824548
hg1924548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2678121, esv2657875
SamplesNA19703, NA19909, NA19204, NA19914, NA18486, NA18504, NA19443, NA19190, NA18510, NA19107, NA18916, NA19197, NA19457, NA19235, NA18520, NA18867, NA18934, NA19455, NA18516, NA18499, NA18856, NA18853, NA19257, NA19834, NA19108, NA19334, NA19248, NA19900, NA19129
Known GenesUSP42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1183e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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