A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1086e199



Internal ID20124388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29773014..29955223hg38UCSC Ensembl
chr6:29740791..29923000hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38182210
hg19182210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674862, esv2658390, esv2671225, esv2661404
SamplesNA18520, NA20522, HG00418, NA20807, NA18959, NA19395, NA19785, NA18940, NA18907, NA18602, NA11830, NA19399, NA18610, NA20758, HG00690, NA19448, NA19087
Known GenesHCG4, HCG4B, HLA-A, HLA-G, HLA-H, LOC554223
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1086e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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