A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663360



Internal ID9582779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46865840..47074746hg38UCSC Ensembl
Outerchr10:46865470..47075117hg38UCSC Ensembl
Innerchr10:48664616..48873522hg19UCSC Ensembl
Outerchr10:48664245..48873892hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38209648
hg19209648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv136e199
Supporting Variantsessv6105634, essv5587204, essv6290087, essv5767631, essv6515865, essv5756918, essv6491793, essv6560988, essv5866480, essv6465784, essv5606631, essv5865145, essv5602627, essv6578065, essv5838543, essv5464145, essv5839225, essv5522513, essv6212629, essv6394567, essv6549955, essv5632652, essv5412638, essv6317169, essv5954975, essv5506194, essv5865593, essv5675133, essv5598578, essv5647531, essv5483547, essv5771173, essv5742586, essv5877108, essv6224799, essv5432986, essv5428484, essv6577512, essv6197657, essv5888873, essv6234002, essv6359204, essv6013909, essv6229468, essv5686656, essv5745329, essv6113285, essv5896325, essv5834240, essv6176361, essv5634606, essv6514312, essv6512447, essv5699792, essv5506899, essv6400828, essv6528368, essv6195125, essv6429001, essv6026495, essv6033632, essv6065703, essv5938359, essv6462537, essv6513217, essv5679798, essv5756936, essv6291649, essv6383297, essv6495099, essv5682159
SamplesNA19058, NA19055, NA18947, NA19066, NA18980, NA18999, NA19057, NA18959, NA19067, NA18988, NA18967, NA19068, NA19005, NA18944, NA18940, NA18982, NA18960, NA18942, NA19062, NA19088, NA19054, NA18964, NA19079, NA18949, NA18986, NA18990, NA18985, NA18975, NA18973, NA19007, NA18951, NA19082, NA19070, NA19056, NA19077, NA18956, NA19081, NA18976, NA18948, NA18981, NA19064, NA19000, NA19059, NA19009, NA18945, NA19012, NA18974, NA18953, NA19003, NA18961, NA18952, NA19072, NA18950, NA18941, NA19010, NA18943, NA19085, NA19078, NA18971, NA19060, NA18987, NA18972, NA18983, NA18984, NA18989, NA19004, NA18968, NA19063, NA19065, NA19074, NA18965
Known GenesFRMPD2P1, PTPN20A, PTPN20B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663360
Frequency
Sample Size1151
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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