A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744612



Internal ID10325582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63931375..63934173hg38UCSC Ensembl
Outerchr11:63698847..63701645hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg382799
hg192799
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6833998, essv6862249, essv6713265, essv6940205, essv6677700, essv6746750, essv6720578, essv6873581, essv6800092, essv6779340, essv6743936, essv6775596, essv6681466, essv6706106, essv6831197, essv6768411, essv6882239, essv6710388, essv6728226, essv6804721, essv6944804, essv6870645, essv6953100, essv6948964, essv6879402, essv6827596, essv6755449, essv6695433, essv6737475, essv6668145, essv6970670, essv6771949, essv6857022, essv6959084, essv6809279, essv6834780, essv6908747, essv6970285, essv6891169, essv6760880, essv6907862, essv6787648, essv6920030, essv6791745, essv6765704, essv6749590, essv6845868, essv6904801, essv6838516, essv6965602, essv6819559, essv6927830, essv6850996, essv6684980, essv6783456, essv6691498, essv6672967, essv6976946, essv6735102, essv6897574, essv6931713, essv6815361, essv6885006, essv6938052, essv6698676, essv6770876, essv6803407, essv6916023, essv6732014, essv6686543, essv6842321, essv6912478, essv6688193, essv6806284, essv6894552, essv6866994, essv6724392, essv6758145, essv6709400, essv6812136, essv6763314, essv6737817, essv6898265
SamplesSSM059, SSM036, SSM008, SSM083, SSM027, SSM024, SSM075, SSM045, SSM046, SSM064, SSM065, SSM087, SSM038, SSM097, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM088, SSM002, SSM041, SSM023, SSM058, SSM028, SSM084, SSM090, SSM047, SSM069, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known Genes
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)esv2744612
Frequency
Sample Size96
Observed Gain0
Observed Loss83
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer