A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674369



Internal ID9593788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7217115..7217221hg38UCSC Ensembl
Outerchr16:7216744..7217591hg38UCSC Ensembl
Innerchr16:7267116..7267222hg19UCSC Ensembl
Outerchr16:7266745..7267592hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38848
hg19848
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674369
Frequency
Sample Size1151
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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