A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678617



Internal ID9598036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86055221..86058798hg38UCSC Ensembl
chr4:86976374..86979951hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg383578
hg193578
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6564886, essv6116615, essv6284584, essv5901195, essv5486498, essv5458243, essv5925381, essv6319731, essv6115828, essv5985921, essv6223275, essv6382453, essv5538440, essv5496478, essv6594547, essv5800283, essv6470336, essv5581175, essv5938766, essv5566125, essv5668804, essv5531350, essv6497164, essv6555501, essv5748741, essv6240011, essv5535328, essv5559686, essv6521978, essv6354321, essv6396243, essv6232706, essv6468179, essv6310170, essv5854125, essv6534754, essv5427943, essv6474499, essv5430926, essv5564225, essv5527724, essv5838746, essv5901792, essv6134846, essv6545392, essv5539092, essv6291213, essv6323051, essv5832909, essv5438964, essv5756257, essv5543583, essv6427529, essv5647492, essv6514636, essv5590487, essv6310755, essv5997202, essv5540519, essv5564141, essv5822514, essv5760214, essv6020624, essv5950699, essv5634596, essv6401651, essv5398041, essv5521317, essv5998036, essv5863748, essv5850099, essv6274434, essv6567453, essv5823892, essv5619768, essv5561144, essv5892627, essv5901488, essv6324807, essv5686747
SamplesNA11881, NA19248, NA12154, NA19436, NA12750, HG01052, HG01075, HG00551, NA19404, NA18523, NA19401, NA10847, NA19334, NA12828, HG01350, HG00139, NA18489, NA19379, NA20588, HG01204, NA12776, NA19678, HG01134, NA19108, NA18488, HG00737, NA20586, NA19463, NA19914, NA12763, NA19982, NA18508, NA19239, HG00337, HG00140, NA07357, NA19900, HG01495, NA20807, NA18856, HG00330, NA11933, NA19835, NA18916, HG00174, HG00243, NA19679, NA20341, HG00114, NA19190, HG00373, HG00159, NA12046, HG00233, NA18498, NA18486, NA18510, HG00265, NA19901, HG00277, NA20828, NA20582, NA19382, HG01383, NA12891, NA18907, NA19446, NA12878, NA11830, NA12546, HG01108, NA19130, NA19240, NA18908, NA19473, NA20806, HG00143, NA20538, HG01354, HG00312
Known GenesMAPK10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678617
Frequency
Sample Size1151
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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