A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2674369

Internal ID9593788
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7217115..7217221hg38UCSC Ensembl
Outerchr16:7216744..7217591hg38UCSC Ensembl
Innerchr16:7267116..7267222hg19UCSC Ensembl
Outerchr16:7266745..7267592hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5395618, essv6374223, essv5884403, essv5775525, essv5705979, essv5706897, essv6401285, essv5481353, essv5436477, essv5942623, essv5495647, essv6510141, essv6025912, essv6063715, essv6252859, essv6503454, essv6283867, essv5676222, essv5475706, essv5467727, essv6481815, essv5691651, essv6292272, essv5701223, essv5923873, essv6155557, essv6096582, essv5910913, essv5443307, essv6444723, essv5593858, essv5488729, essv6467320, essv6135320, essv5939605, essv5952635, essv6553195, essv6447085, essv5756493, essv5938400, essv6223694, essv5426505, essv5840430, essv5503991, essv6386055, essv5465856, essv6587867, essv5476475, essv5807939, essv6308808, essv6030954, essv5652609, essv5477651, essv6295528, essv5399865, essv5912799, essv5651247, essv6109836, essv6420536, essv6319909, essv5601931, essv5634994, essv6154922, essv5661403, essv5543119, essv5719919, essv5807952, essv5493026, essv6465159, essv6470866
SamplesNA19012, NA18964, NA19081, NA18952, NA19060, NA19072, NA18972, NA18947, NA19010, NA18963, NA19004, NA18965, NA19084, NA18943, NA18950, NA18949, NA19077, NA19062, NA19067, NA19085, NA18967, NA19054, NA19059, NA19076, NA19057, NA19068, NA18960, NA18990, NA19083, NA19088, NA18956, NA19066, NA18976, NA19075, NA18982, NA19056, NA19082, NA19000, NA19055, NA19080, NA18968, NA18986, NA19005, NA19002, NA18977, NA18941, NA18942, NA18988, NA19074, NA18974, NA18985, NA18945, NA18940, NA18987, NA18999, NA18983, NA19078, NA19009, NA18989, NA18971, NA18944, NA19063, NA19070, NA18981, NA19079, NA19087, NA19007, NA19065, NA19058, NA18980
Known GenesRBFOX1
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2674369
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0

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