A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659296



Internal ID9578715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110124369..110139651hg38UCSC Ensembl
chr5:109460070..109475352hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg3815283
hg1915283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1037e199
Supporting Variantsessv6324057, essv5704934, essv6246839, essv6120774, essv6215108, essv6375119, essv5520387, essv6388523, essv5879906, essv6359206, essv6379752, essv5564763, essv5652664, essv5946974, essv5497468, essv6161730, essv5926652, essv5785021, essv6295120, essv5913270, essv5791159, essv5774843, essv5968293, essv6457463, essv6048691, essv6386432, essv5395713, essv6474238, essv6535377, essv6368517, essv6283340, essv6216638, essv5697743, essv5506581, essv5799560, essv6105676, essv5618090, essv6042819, essv5523423, essv6381359, essv5513403, essv6517290, essv6228396, essv5774148, essv6003338, essv5699964, essv5916974, essv6411575, essv6228228, essv5891464, essv6314761, essv6346833, essv5880813, essv5755519, essv6513707, essv5535805, essv5945480, essv5548714, essv6268362, essv5843813, essv6015609, essv5432269, essv5793854, essv5855714, essv6493593, essv6529714, essv6040658, essv6447467, essv6303980, essv5642560, essv6007249, essv6467805, essv6561837, essv6166068, essv6377166
SamplesNA19701, NA19703, NA19399, NA19704, NA19350, NA19359, NA19092, NA19819, NA19393, NA20346, NA19443, NA20356, NA19920, NA19446, HG00641, NA18519, NA19448, NA19916, NA19457, NA19313, NA19138, NA19904, NA19384, NA20291, NA19404, NA19383, NA18868, NA19235, NA19385, NA19471, NA19317, NA19901, NA18520, NA19456, NA19445, NA19985, NA18867, NA19908, NA19347, NA19391, NA18871, NA18907, HG01073, NA19449, NA19453, NA18853, NA19338, NA19469, NA19375, NA19834, NA19321, NA20276, NA19434, NA19473, NA19435, NA19444, HG01174, NA19470, NA19428, NA19467, NA19360, NA20348, NA19248, NA19438, NA19472, NA19468, NA19713, NA19474, NA19102, NA18873, NA19711, NA19213, NA19316, NA19312, NA18487
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659296
Frequency
Sample Size1151
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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