A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv1393e199

Internal ID18816121
Location Information
TypeCoordinatesAssemblyOther Links
chrX:3688183..3688600hg38UCSC Ensembl
chrX:3606224..3606641hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)dgv1393e199
Sample Size1151
Observed Gain0
Observed Loss173
Observed Complex0

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