A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746553



Internal ID10327523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124948674..124948856hg38UCSC Ensembl
Outerchr12:125433220..125433402hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6970892, essv6702530, essv6779536, essv6953299, essv6949164, essv6706280, essv6939718, essv6713065, essv6677901, essv6685149, essv6681651, essv6803563, essv6876734, essv6912682, essv6916199, essv6897714, essv6900077, essv6940421, essv6870785, essv6744089, essv6959389, essv6687899, essv6971951, essv6894719, essv6720766, essv6815533, essv6851321, essv6749747, essv6873743, essv6772942, essv6812284, essv6796112, essv6927993, essv6904976, essv6732205, essv6823702, essv6800297, essv6888051, essv6787829, essv6746917, essv6977344, essv6806476, essv6741143, essv6885135, essv6842510, essv6831377, essv6846013, essv6809445, essv6695633, essv6834952, essv6724573, essv6709571, essv6867262, essv6857328, essv6772118, essv6838682, essv6791922, essv6900699, essv6752635, essv6931923, essv6920273, essv6728404, essv6827788, essv6775777, essv6862484, essv6924425, essv6698809, essv6691672, essv6783630, essv6908959
SamplesSSM100, SSM036, SSM008, SSM083, SSM071, SSM024, SSM075, SSM045, SSM046, SSM079, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM073, SSM042, SSM088, SSM041, SSM057, SSM028, SSM092, SSM084, SSM090, SSM047, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM017, SSM019, SSM032, SSM003, SSM067, SSM044, SSM014, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM040, SSM072, SSM082, SSM020, SSM015, SSM016, SSM053, SSM005, SSM080, SSM037, SSM077, SSM076, SSM022, SSM091, SSM055, SSM070, SSM095, SSM025, SSM034, SSM004, SSM099, SSM052, SSM098, SSM056, SSM012
Known GenesDHX37
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)esv2746553
Frequency
Sample Size96
Observed Gain0
Observed Loss70
Observed Complex0
Frequencyn/a


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