A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670038



Internal ID9936143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186376954..186379014hg38UCSC Ensembl
chr3:186094743..186096803hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg382061
hg192061
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6556732, essv6196520, essv6550170, essv5726604, essv6312125, essv6408111, essv5596277, essv5916316, essv6583702, essv5971896, essv5905395, essv5769453, essv5437152, essv6226439, essv5492135, essv5500989, essv5582602, essv5602533, essv6411725, essv6229846, essv5558485, essv5776080, essv6440741, essv6575257, essv6472027, essv5691208, essv5951150, essv5480560, essv6227231, essv5405822, essv5883428, essv6143655, essv6070543, essv5590106, essv5929319, essv5433714, essv5784575, essv6419227, essv5855803, essv5711858, essv6294706, essv5730830, essv5998355, essv5814803, essv5410325, essv5874057, essv6464292, essv6029303, essv6346085, essv6082885, essv5759630, essv6167829, essv6483696, essv6440342
SamplesNA19701, HG01173, NA19399, NA19359, NA19092, NA18486, NA19377, NA18870, NA20356, NA19920, NA18510, NA19446, NA19379, HG01351, NA18916, NA19457, NA18498, NA19904, NA19404, NA19137, NA19189, NA18520, NA19445, NA18867, NA19247, NA19462, NA19152, NA19455, NA18910, NA20344, NA18853, NA19452, NA19318, NA19395, HG01107, HG01075, NA19440, NA18909, NA19834, NA19108, NA19256, NA19473, NA19334, NA19467, HG01108, NA20341, NA19328, NA18501, NA19248, NA19713, NA19474, NA19711, NA18488, NA19429
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670038
Frequency
Sample Size1151
Observed Gain0
Observed Loss54
Observed Complex0
Frequencyn/a


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