A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744635



Internal ID10325605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:65874554..65876095hg38UCSC Ensembl
Outerchr11:65642025..65643566hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381542
hg191542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6866996, essv6944808, essv6931720, essv6728227, essv6681471, essv6804754, essv6815364, essv6755451, essv6823529, essv6749592, essv6688194, essv6920033, essv6768413, essv6698678, essv6819561, essv6740963, essv6746752, essv6927833, essv6760882, essv6668147, essv6940210, essv6970675, essv6916025, essv6904805, essv6775602, essv6672969, essv6834784, essv6800095, essv6724395, essv6898287, essv6716680, essv6720579, essv6862250, essv6706108, essv6695435, essv6783459, essv6953103, essv6873583, essv6876563, essv6758147, essv6948967, essv6735103, essv6970318, essv6732017, essv6965608, essv6712883, essv6686554, essv6806286
SamplesSSM059, SSM027, SSM024, SSM045, SSM046, SSM064, SSM079, SSM038, SSM013, SSM009, SSM074, SSM042, SSM088, SSM023, SSM058, SSM028, SSM092, SSM047, SSM061, SSM089, SSM017, SSM019, SSM035, SSM031, SSM044, SSM033, SSM066, SSM068, SSM040, SSM072, SSM082, SSM020, SSM078, SSM016, SSM005, SSM037, SSM077, SSM022, SSM091, SSM055, SSM025, SSM004, SSM043, SSM052, SSM049, SSM056, SSM030, SSM012
Known Genes
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)esv2744635
Frequency
Sample Size96
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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