A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667784



Internal ID9933889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16037286..16060545hg38UCSC Ensembl
chr1:16363781..16387040hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3823260
hg1923260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv20e199
Supporting Variantsessv5588071, essv6017749, essv6221515, essv6030671, essv5644091, essv6335537, essv5777089, essv5880906, essv6316965, essv6369592, essv5667076, essv5959556, essv5700590, essv6093745, essv5715426, essv5792506, essv6370693, essv6324062, essv5590494, essv6221750, essv5561772, essv5428695, essv6282173, essv6495336, essv5460081, essv5531801, essv6116447, essv5868416, essv5980215, essv6540430, essv5754310, essv5927650, essv5749345, essv6472334, essv6423294, essv5968108, essv5734500, essv6172469, essv6334287, essv6080806, essv6114631, essv5691004, essv6509033, essv5965722, essv6277495, essv6566733
SamplesHG01521, HG00100, HG01066, HG00151, HG00367, HG01465, HG00103, NA18625, HG01250, NA18550, HG01488, HG00173, HG01168, NA18567, NA18619, NA20518, HG01519, NA18977, NA19002, NA18614, HG00188, NA19082, HG00732, NA20760, NA18637, NA20344, NA19084, HG00613, NA18963, HG00611, HG00265, HG00565, HG01494, NA19083, NA19783, HG00620, NA19078, NA20348, NA19779, NA20334, HG00174, NA20289, HG00377, HG00171, HG01112, NA19074
Known GenesCLCNKB, FAM131C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667784
Frequency
Sample Size1151
Observed Gain0
Observed Loss46
Observed Complex0
Frequencyn/a


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