A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1087e199



Internal ID20124389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29874968..29948334hg38UCSC Ensembl
chr6:29842745..29916111hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3873367
hg1973367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663264, esv2667584, esv2669595, esv2661685, esv2676323, esv2657754, esv2674693, esv2658258, esv2677025
SamplesHG01060, HG01441, NA19058, HG00121, HG01356, NA19055, HG00608, NA18947, NA12286, HG00671, NA19066, NA10851, HG00559, HG01079, HG01188, HG01389, NA18999, NA19777, NA18596, HG01456, HG00566, NA18959, NA20517, HG01461, HG00654, NA18526, HG01051, NA19067, HG01140, HG00693, NA18988, HG00663, NA18967, HG01250, HG00641, NA19076, HG01350, NA18944, NA18940, HG00501, HG01488, HG00689, NA18982, NA19198, HG01492, HG00634, NA18960, NA18942, NA19062, NA19088, HG01365, NA19079, NA18949, HG00512, HG01455, HG01069, HG01080, HG01067, HG01495, HG01176, HG00705, NA18986, HG00427, NA18990, HG01198, NA18985, NA18973, HG01550, HG00419, NA20755, HG01124, HG01353, HG01183, NA18951, HG00560, NA12489, HG00731, NA19056, HG00596, HG00245, NA20505, NA19077, HG00428, HG01095, HG00701, NA19327, NA19455, NA20314, HG00436, HG00584, HG00583, HG01498, NA19064, HG01073, NA19000, HG00690, HG00404, HG00531, HG00479, NA12829, NA11894, HG01101, HG00613, HG01497, NA19059, NA19009, HG00445, NA19012, HG00476, HG01190, NA18961, NA18952, NA19072, NA18950, NA18941, NA19010, HG01494, HG01113, HG00418, NA19085, HG00620, NA19078, HG00478, NA18971, HG00378, HG01055, NA18972, HG01251, NA18984, HG00472, HG01378, NA19004, HG01125, HG00628, NA19063, NA19074, HG01437, HG01061, NA18562, HG00593
Known GenesHCG4B, HLA-A, HLA-H
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1087e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss140
Observed Complex0
Frequencyn/a


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