A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747194



Internal ID10328164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29046065..29351659hg38UCSC Ensembl
Outerchr13:29620202..29925796hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38305595
hg19305595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6924471, essv6862547, essv6688032, essv6870812, essv6695703, essv6945090, essv6908993, essv6908996, essv6838747, essv6842570, essv6691722, essv6763474, essv6920344, essv6897742, essv6812313, essv6888092, essv6673361, essv6806475, essv6916249, essv6909462, essv6905024, essv6885170, essv6862548, essv6882423, essv6945091, essv6928038, essv6695702, essv6768608, essv6713116, essv6695701, essv6677952, essv6673363, essv6867324, essv6783690, essv6891391, essv6681705, essv6803596, essv6768607, essv6846050, essv6977468, essv6972350, essv6688044, essv6739353, essv6920345, essv6815574, essv6870813, essv6791980, essv6873779, essv6815573, essv6873780, essv6702591, essv6897741, essv6796155, essv6908992, essv6894772, essv6891392, essv6724626, essv6827858, essv6791981, essv6928037, essv6728459, essv6879579, essv6739364, essv6713115, essv6831439, essv6931987, essv6900521, essv6912743, essv6803595, essv6698847, essv6959490, essv6827859, essv6949215, essv6819855, essv6916250, essv6931988, essv6857419, essv6905023, essv6677953, essv6783689, essv6709612, essv6835001, essv6885169, essv6866932, essv6949214, essv6894771, essv6940483, essv6842569, essv6735283, essv6779584, essv6908994, essv6691720, essv6900723, essv6888093, essv6888091, essv6720811, essv6809482, essv6800356, essv6823763, essv6732262, essv6966012, essv6827860, essv6716930, essv6972339, essv6959489, essv6812312, essv6900724, essv6857418, essv6698846, essv6966013, essv6716929, essv6966014, essv6720810, essv6702590, essv6959488, essv6796156, essv6851415, essv6807076, essv6924472, essv6867323, essv6900510, essv6900722, essv6806474, essv6752658, essv6772197, essv6772199, essv6970960, essv6685197, essv6775824, essv6905025, essv6823764, essv6800357, essv6779583, essv6846051, essv6867322, essv6706330, essv6928039, essv6838748, essv6809481, essv6809480, essv6730597, essv6909451, essv6940163, essv6846049, essv6755670, essv6673362, essv6931986, essv6882422, essv6862549, essv6732261, essv6862546, essv6879577, essv6831438, essv6765848, essv6688393, essv6673360, essv6803594, essv6796157, essv6879578, essv6835000, essv6953368, essv6882424
SamplesSSM100, SSM036, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM058, SSM028, SSM084, SSM090, SSM047, SSM018, SSM029, SSM096, SSM062, SSM026, SSM089, SSM017, SSM019, SSM035, SSM094, SSM032, SSM003, SSM031, SSM067, SSM044, SSM001, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM007, SSM015, SSM078, SSM016, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM098, SSM049, SSM063, SSM012
Known GenesMTUS2
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)esv2747194
Frequency
Sample Size96
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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