A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2744431

Internal ID9978715
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:46014658..46015062hg38UCSC Ensembl
Outerchr11:46036209..46036613hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6755429, essv6688170, essv6959051, essv6904775, essv6862217, essv6677669, essv6856985, essv6931683, essv6752463, essv6760858, essv6915992, essv6686287, essv6709374, essv6728199, essv6737796, essv6763293, essv6970646, essv6927801, essv6712858, essv6976910, essv6706082, essv6768385, essv6698654, essv6804499, essv6891142, essv6668128, essv6720551, essv6838489, essv6831177, essv6870611, essv6716649, essv6758118, essv6743923, essv6806258, essv6908717, essv6912450, essv6812111, essv6787621, essv6783423, essv6876546, essv6879381, essv6695406, essv6833754, essv6737265, essv6897547, essv6691470, essv6791714, essv6965562, essv6681445, essv6900529, essv6731987, essv6940179, essv6800058, essv6711820, essv6882215, essv6819532, essv6702297, essv6953077, essv6724356, essv6749568, essv6935978, essv6834752, essv6907618, essv6970040, essv6944759, essv6823495, essv6937829, essv6924191, essv6864564, essv6672927, essv6771928, essv6948926, essv6845841, essv6779308, essv6827568, essv6898009, essv6850962, essv6884978, essv6710177, essv6873555
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM091, SSM033, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM009, SSM011, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM069, SSM021, SSM002, SSM037, SSM087, SSM038, SSM046, SSM019, SSM023, SSM079, SSM068, SSM044, SSM074, SSM004, SSM015, SSM026, SSM014, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesPHF21A
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2744431
Sample Size96
Observed Gain0
Observed Loss80
Observed Complex0

Hosted by The Centre for Applied Genomics
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