A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1393e199



Internal ID11593652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3688183..3688600hg38UCSC Ensembl
chrX:3606224..3606641hg19UCSC Ensembl
CytobandXp22.33
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2674456, esv2663470
SamplesHG01357, NA20281, NA19012, NA18964, HG00152, NA12750, NA19712, NA18595, NA18616, NA18630, HG00328, HG01055, NA20752, NA18952, HG00705, HG00437, HG00500, HG00245, HG00565, NA18550, NA19072, HG00707, HG01079, NA18545, HG00463, HG00657, HG01365, HG00577, NA19010, HG00173, NA18573, NA18608, NA18542, NA18541, NA19379, NA19834, HG00334, HG01204, HG00187, HG00404, NA07051, HG00651, HG00280, NA18965, HG00253, HG00699, NA12341, NA18557, NA12287, HG01171, NA18626, HG00479, HG00592, NA19077, HG00543, HG00154, NA18559, HG00339, NA19463, NA19067, NA12763, NA18624, HG00250, NA18627, NA12282, NA20515, HG00583, NA18960, HG00259, NA18623, NA20504, NA20757, HG01048, HG00610, HG01061, NA18617, NA18990, HG00692, HG01183, NA18636, NA20754, NA19088, HG00628, HG00330, NA18638, NA19066, NA11933, NA18959, HG00258, NA19835, HG01187, NA12830, NA18634, HG00237, NA19082, HG00584, HG00662, NA18539, NA20773, HG00620, NA19377, NA19080, NA18537, NA18633, NA19703, HG00325, HG00629, NA12348, HG01073, HG00672, HG00282, HG01069, HG01356, HG00478, NA18564, HG00513, HG00512, HG00246, NA19328, NA18579, NA18985, NA18940, NA18619, NA18582, NA18597, HG00590, NA18552, NA19138, NA06984, NA19403, NA18565, NA19009, HG00663, NA18560, NA19434, HG00448, NA18602, HG00608, NA18577, HG00654, NA19064, NA19399, NA12842, HG00142, HG01366, NA18571, HG00708, HG01108, HG00693, NA18611, HG00324, HG00690, NA12717, NA18532, NA18574, HG00442, HG00473, HG01489, HG00626, HG00684, NA18615, HG00336, HG00476, HG00671, HG00702, NA18555, NA19007, HG00136, HG00126, NA18980, HG01067, HG01354, NA19439
Known GenesPRKX
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1393e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss173
Observed Complex0
Frequencyn/a


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