A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656703



Internal ID9576122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101923805..101923927hg38UCSC Ensembl
chr14:102390142..102390264hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg38123
hg19123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6155726, essv5450518, essv6095074, essv5891019, essv5713633, essv5734000, essv5626142, essv6054444, essv6179433, essv6046023, essv5882236, essv5701124, essv6541847, essv5941685, essv6023494, essv5866447, essv5814755, essv6190415, essv5494079, essv5425535, essv6324466, essv6395638, essv6044983, essv6520842, essv5478039, essv5428204, essv6500753, essv6469993, essv5889348, essv5844643, essv6417096, essv6504549, essv5865775, essv5866262, essv5796647, essv6351116, essv6284970, essv5948664, essv6403404, essv5622319, essv5866319, essv6237854, essv5549613, essv6034908, essv6402791, essv6518671, essv5527528, essv5808783, essv6157171, essv6291575, essv5762885, essv6247737, essv6485113, essv6052068, essv5408297, essv6571408, essv6007853, essv5828461, essv6010303, essv5886870, essv5834676, essv5736528, essv5566236, essv6362531, essv6368836, essv5505457, essv5638352, essv5686540, essv6504750, essv6588728, essv5870912, essv6126083, essv5526292, essv6090288, essv5608179, essv5680556, essv5515987, essv5646235, essv5928562, essv6349768, essv6127924, essv5920055, essv5904657, essv5583637, essv5479331, essv5448737, essv6152319, essv6210544, essv5399085, essv6438173, essv6156275, essv5424029, essv5451607, essv5699403, essv5861942, essv6555097, essv5851370
SamplesHG01357, HG00157, NA12249, NA19436, NA18520, NA19904, NA20278, NA18871, NA19819, NA18933, NA18523, NA18874, HG01342, HG00171, HG00160, NA19469, NA19223, NA11931, NA19788, HG00326, HG00553, HG01204, NA19648, NA19257, NA11893, HG00331, NA19701, NA19474, HG00319, NA20322, NA18505, HG01551, NA18873, NA19776, HG00353, NA20340, NA20761, NA19428, NA11919, NA18508, HG01375, NA19652, NA19443, HG00096, HG01183, HG01495, NA18856, NA19398, NA19429, NA19440, NA12400, NA20282, HG01253, NA18916, NA19663, NA19700, HG00343, HG00133, NA12751, NA20769, NA12716, NA19129, NA19172, NA18498, NA18510, NA18502, NA20540, NA19704, NA20814, NA20582, NA19720, HG00153, HG00329, NA12283, NA18562, NA18910, NA19382, NA19235, NA20756, NA19116, HG00262, NA20289, HG00118, NA19099, HG01390, NA20317, NA19655, NA18499, NA18924, HG01125, HG00137, NA19381, NA20524, NA19448, HG00345, HG00136, HG00327
Known GenesPPP2R5C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656703
Frequency
Sample Size1151
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer