A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746242



Internal ID9980526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95946545..95949160hg38UCSC Ensembl
Outerchr12:96340323..96342938hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382616
hg192616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687810, essv6862459, essv6891333, essv6834936, essv6796091, essv6835288, essv6870774, essv6908942, essv6965859, essv6876705, essv6873727, essv6959350, essv6838667, essv6931900, essv6949143, essv6738909, essv6752617, essv6768539, essv6728386, essv6775754, essv6711465, essv6894696, essv6904957, essv6897695, essv6695607, essv6698790, essv6815517, essv6827761, essv6758271, essv6765808, essv6920243, essv6812271, essv6791901, essv6800272, essv6819766, essv6732179, essv6668241, essv6936188, essv6724555, essv6857284, essv6806165, essv6851280, essv6924403, essv6899844, essv6691658, essv6720746, essv6940391, essv6755612, essv6685136, essv6845993, essv6803551, essv6970857, essv6713047, essv6939540, essv6831357, essv6702511, essv6746894, essv6953285, essv6761025, essv6879541, essv6909063, essv6749726, essv6709548, essv6772096, essv6842482, essv6912660, essv6885123, essv6716849, essv6677875, essv6867238, essv6735238, essv6779518, essv6737942, essv6900684, essv6673235, essv6706267, essv6741113, essv6726598, essv6888039, essv6787814, essv6927977, essv6688342, essv6772631, essv6977286, essv6809425, essv6882367, essv6823682, essv6763439, essv6783611, essv6806425, essv6916177, essv6971818, essv6681629, essv6866220, essv6744073, essv6945015
SamplesSSM010, SSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM053, SSM082, SSM086, SSM006, SSM036, SSM055, SSM091, SSM033, SSM084, SSM061, SSM099, SSM042, SSM040, SSM078, SSM043, SSM088, SSM089, SSM090, SSM064, SSM031, SSM035, SSM025, SSM072, SSM020, SSM071, SSM016, SSM057, SSM001, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM050, SSM097, SSM041, SSM077, SSM062, SSM005, SSM012, SSM093, SSM100, SSM056, SSM085, SSM017, SSM009, SSM011, SSM066, SSM028, SSM029, SSM003, SSM095, SSM030, SSM047, SSM073, SSM069, SSM021, SSM002, SSM037, SSM034, SSM063, SSM087, SSM038, SSM046, SSM019, SSM096, SSM023, SSM079, SSM052, SSM068, SSM044, SSM074, SSM004, SSM075, SSM015, SSM026, SSM014, SSM049, SSM008, SSM098, SSM018, SSM076, SSM058, SSM059, SSM081, SSM070, SSM080
Known GenesAMDHD1
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)esv2746242
Frequency
Sample Size96
Observed Gain0
Observed Loss96
Observed Complex0
Frequencyn/a


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