A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744431



Internal ID3292383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:46014658..46015062hg38UCSC Ensembl
Outerchr11:46036209..46036613hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38405
hg19405
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
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2744431
Frequency
Sample Size96
Observed Gain0
Observed Loss80
Observed Complex0
Frequencyn/a


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