A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745325



Internal ID9979609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:134281271..134344520hg38UCSC Ensembl
Outerchr11:134151165..134214414hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3863250
hg1963250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6677764, essv6795978, essv6834510, essv6749638, essv6867086, essv6851094, essv6765738, essv6891240, essv6949035, essv6695495, essv6959184, essv6873629, essv6688241, essv6885048, essv6803461, essv6940278, essv6673083, essv6927881, essv6908811, essv6698717, essv6772005, essv6944879, essv6709445, essv6812184, essv6959182, essv6710721, essv6977083, essv6827655, essv6845913, essv6931782, essv6900605, essv6806339, essv6842382, essv6965698, essv6732074, essv6681524, essv6812183, essv6898744, essv6838569, essv6823579, essv6763351, essv6779408, essv6891239, essv6755500, essv6743986, essv6809330, essv6691548, essv6685036, essv6916071, essv6870684, essv6735139, essv6717375, essv6876619, essv6959183, essv6819641, essv6887972, essv6865197, essv6741024, essv6870683, essv6737855, essv6887973, essv6737865, essv6815423, essv6673084, essv6771376, essv6809332, essv6927882, essv6775649, essv6857124, essv6938573, essv6746802, essv6879444, essv6904870, essv6867088, essv6882284, essv6803462, essv6924283, essv6953169, essv6800164, essv6668181, essv6831267, essv6920105, essv6920104, essv6779409, essv6842383, essv6862316, essv6916070, essv6873628, essv6702401, essv6823578, essv6805154, essv6706169, essv6685037, essv6908812, essv6970747, essv6809329, essv6720633, essv6865219, essv6752532, essv6724449, essv6787706, essv6977082, essv6936069, essv6716739, essv6912540, essv6865208, essv6904871, essv6894603
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM011, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM088, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM006, SSM085, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM095, SSM025, SSM034, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesGLB1L2, GLB1L3
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)esv2745325
Frequency
Sample Size96
Observed Gain0
Observed Loss84
Observed Complex0
Frequencyn/a


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