A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738532



Internal ID9972872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69123076..69128420hg38UCSC Ensembl
Outerchr9:71737992..71743336hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg385345
hg195345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6873346, essv6845585, essv6944370, essv6894236, essv6815040, essv6904470, essv6743680, essv6684254, essv6831475, essv6691193, essv6884773, essv6923816, essv6958413, essv6861804, essv6823170, essv6681140, essv6692154, essv6838175, essv6908391, essv6908390, essv6935580, essv6905385, essv6791358, essv6919659, essv6856446, essv6897297, essv6912111, essv6879160, essv6724028, essv6778983, essv6876302, essv6727872, essv6802010, essv6752210, essv6757904, essv6749327, essv6948568, essv6701938, essv6934996, essv6709114, essv6970250, essv6787249, essv6841986, essv6834478, essv6737540, essv6967507, essv6672379, essv6850427, essv6939843, essv6771589, essv6746475, essv6887639, essv6716289, essv6952725, essv6768139, essv6827221, essv6861842, essv6931308, essv6760627, essv6755162, essv6915724, essv6809014, essv6783024, essv6698438, essv6795535, essv6667972, essv6740651, essv6705779, essv6803147, essv6695029, essv6720238, essv6894821, essv6927509, essv6881985, essv6964994, essv6767698, essv6890865, essv6763081, essv6819121, essv6775268, essv6734843, essv6866539, essv6765485, essv6976235, essv6799719, essv6734875, essv6731641, essv6900285, essv6870392, essv6830866, essv6712580, essv6811882
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM094, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM010, SSM091, SSM055, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesTJP2
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)esv2738532
Frequency
Sample Size96
Observed Gain0
Observed Loss91
Observed Complex0
Frequencyn/a


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