A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731707



Internal ID10315343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:5157764..5282745hg38UCSC Ensembl
Outerchr10:5199965..5324708hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38124982
hg19124744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727983, essv6952859, essv6709208, essv6923950, essv6740756, essv6795668, essv6765553, essv6684954, essv6830977, essv6757975, essv6958654, essv6845669, essv6900364, essv6705893, essv6894350, essv6743761, essv6702067, essv6915831, essv6873424, essv6775383, essv6712699, essv6752304, essv6827340, essv6827339, essv6757978, essv6884849, essv6876394, essv6842102, essv6688003, essv6787391, essv6765552, essv6791485, essv6890957, essv6904583, essv6787392, essv6948699, essv6698506, essv6677469, essv6668034, essv6731760, essv6684943, essv6691301, essv6803236, essv6856631, essv6716420, essv6939966, essv6760702, essv6752305, essv6684780, essv6811951, essv6976471, essv6968451, essv6823289, essv6779112, essv6879237, essv6672571, essv6866684, essv6819251, essv6763160, essv6970406, essv6965191, essv6734946, essv6976473, essv6904585, essv6681258, essv6935737, essv6815150, essv6724152, essv6737633, essv6708909, essv6887728, essv6768228, essv6691302, essv6809107, essv6832321, essv6931449, essv6895976, essv6695159, essv6850610, essv6799854, essv6795667, essv6976474, essv6768710, essv6906129, essv6749411, essv6862764, essv6936063, essv6806115, essv6908497, essv6882060, essv6802976, essv6771727, essv6720344, essv6919790, essv6763159, essv6958653, essv6912243, essv6698932, essv6897374, essv6768698, essv6870469, essv6927625, essv6861937, essv6842101, essv6783178, essv6919791, essv6944516, essv6834582, essv6838294, essv6735698, essv6757977
SamplesSSM100, SSM059, SSM036, SSM008, SSM083, SSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM064, SSM079, SSM065, SSM087, SSM038, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM050, SSM074, SSM042, SSM088, SSM002, SSM041, SSM057, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM096, 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, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM043, SSM052, SSM098, SSM049, SSM056, SSM030, SSM063, SSM012
Known GenesAKR1C4, AKR1CL1
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)esv2731707
Frequency
Sample Size96
Observed Gain0
Observed Loss94
Observed Complex0
Frequencyn/a


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