A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20e199



Internal ID22757793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16037286..16062671hg38UCSC Ensembl
chr1:16363781..16389166hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3825386
hg1925386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2677387, esv2667784, esv2657098, esv2675551
SamplesNA20761, HG00650, HG00542, NA19058, HG01521, HG00671, HG00100, NA18561, HG01066, HG00151, HG00367, HG01465, HG00103, NA19819, HG01456, HG00566, NA18625, HG01518, NA18988, HG01250, NA19660, NA18940, NA18550, HG01488, HG00173, HG01168, NA18567, NA18619, NA18960, NA18574, NA18582, NA19782, NA18964, HG00311, HG00590, HG01455, NA20518, NA20278, HG01519, NA18977, NA19235, NA19002, HG00326, NA20533, NA20818, NA18614, NA11831, HG01136, HG00188, HG00149, HG00443, NA19082, NA19070, NA20809, HG00732, NA20760, NA20314, NA18637, NA20770, NA20344, NA19064, HG00740, HG01390, NA18573, NA19774, NA19084, HG00531, HG00613, NA18963, NA20828, HG00611, NA20522, HG00265, NA19747, HG00565, NA19072, NA20804, NA19010, HG01494, NA19786, NA19083, NA19360, NA19783, HG00620, NA19078, NA20348, NA19248, NA19779, HG00656, NA20334, HG01254, HG00174, NA20289, NA20807, HG00377, NA19661, HG00595, NA19004, NA18488, NA19758, HG00171, NA18623, HG01112, NA19074, NA11832, NA18620
Known GenesCLCNKB, FAM131C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv20e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss106
Observed Complex0
Frequencyn/a


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