A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv136e199



Internal ID20123438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46865470..47075517hg38UCSC Ensembl
chr10:48663845..48873892hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38210048
hg19210048
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2663360, esv2665368
SamplesNA19012, NA18621, NA18964, NA18605, NA18595, NA18616, NA18951, NA18534, NA18535, NA18630, NA18561, NA19081, NA18952, NA18975, NA18612, NA18526, NA19060, NA18550, NA18570, NA19003, NA19072, NA18545, NA18603, NA18948, NA18953, NA18972, NA18947, NA19010, NA18573, NA18608, NA18542, NA18546, NA19004, NA18965, NA18557, NA18943, NA18950, NA18626, NA18628, NA18949, NA18632, NA19077, NA18559, NA19062, NA19067, NA19085, NA18624, NA18967, NA19054, NA18627, NA19059, NA18566, NA18635, NA19057, NA19068, NA18536, NA18576, NA18622, NA18960, NA18563, NA18618, NA18623, NA18990, NA18636, NA18592, NA19088, NA18638, NA18956, NA19066, NA18959, NA18609, NA18547, NA18976, NA18637, NA18973, NA18593, NA18982, NA19056, NA18634, NA19082, NA18539, NA19000, NA19055, NA18537, NA18620, NA18633, NA18572, NA18968, NA18986, NA19005, NA18558, NA18941, NA18564, NA18942, NA18961, NA18613, NA18988, NA18562, NA19074, NA18579, NA18974, NA18985, NA18945, NA18606, NA18543, NA18940, NA18987, NA18582, NA18999, NA18597, NA18552, NA18983, NA18599, NA18567, NA19078, NA18538, NA18565, NA19009, NA18631, NA18560, NA18989, NA18544, NA18971, NA18602, NA18577, NA18614, NA18548, NA19064, NA18944, NA19063, NA18571, NA18610, NA19070, NA18984, NA18611, NA18532, NA18549, NA18981, NA19079, NA18615, NA18555, NA19007, NA19065, NA19058, NA18980, NA18553
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv136e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss146
Observed Complex0
Frequencyn/a


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