A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676226



Internal ID9942331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78813976..78816047hg38UCSC Ensembl
chr5:78109799..78111870hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382072
hg192072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6455255, essv5705827, essv5585345, essv5621609, essv5516462, essv5464653, essv6508375, essv6218701, essv5521722, essv5670747, essv6551847, essv5471232, essv5714690, essv6318966, essv6227226, essv6406733, essv5724573, essv5838326, essv6503495, essv5791260, essv5706132, essv5987278, essv6312128, essv5833162, essv5899279, essv5919622, essv6022328, essv5797715, essv6370093, essv6321953, essv6512051, essv5453580, essv6261616, essv6492917, essv5726752, essv6273150, essv6539380, essv5538569, essv6188629, essv6170607, essv5981490, essv6334314, essv6219767, essv5403822, essv5505012, essv5789241, essv5559739, essv5465215, essv6253140, essv6164536, essv5477577, essv5630996, essv6017319, essv5999124, essv6206055, essv5702526, essv6093996, essv6212136, essv5429631, essv6314582, essv5835641, essv6431862, essv5431026, essv5967214, essv6585905, essv5756081, essv6232228, essv5916874, essv6481858, essv6222242, essv6462264, essv5753579, essv6434997, essv6598098, essv6171962, essv5762405, essv6083168
SamplesNA20588, NA20761, HG00650, HG00536, NA18621, NA19066, NA19332, HG00257, HG01066, NA20294, NA19355, NA20805, NA19377, NA18530, HG00737, HG00177, HG01051, NA20356, NA19920, NA12155, HG01070, HG00689, HG00448, NA19723, NA18567, NA12891, NA20769, NA07347, HG01080, NA20278, HG00683, HG00148, NA19137, HG01176, HG00427, NA20811, HG01048, NA19456, HG00326, HG00419, NA20755, NA20753, HG00260, NA19908, NA19070, NA12878, NA20760, NA19982, NA18637, NA18626, NA11893, NA06989, HG00140, NA18555, HG00152, NA19452, NA20828, NA18523, NA18536, NA19390, NA19834, HG00565, NA19435, NA19773, NA20530, HG00473, HG00237, HG01108, HG00418, HG00707, NA19093, HG00310, NA20786, NA20322, NA12890, NA19429, HG01061
Known GenesARSB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676226
Frequency
Sample Size1151
Observed Gain0
Observed Loss77
Observed Complex0
Frequencyn/a


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