A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745124



Internal ID9979408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:118658082..118688001hg38UCSC Ensembl
Outerchr11:118528792..118558710hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3829920
hg1929919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6763339, essv6787694, essv6867058, essv6768446, essv6716724, essv6940265, essv6897605, essv6887959, essv6924264, essv6775637, essv6716709, essv6857102, essv6755491, essv6686821, essv6904854, essv6827640, essv6803450, essv6842367, essv6936049, essv6783507, essv6949021, essv6791786, essv6900593, essv6749624, essv6779397, essv6894591, essv6795966, essv6800141, essv6737765, essv6845906, essv6898644, essv6970734, essv6965678, essv6668170, essv6953155, essv6805087, essv6834399, essv6806324, essv6728263, essv6891220, essv6706152, essv6920082
SamplesSSM100, SSM071, SSM027, SSM024, SSM046, SSM064, SSM087, SSM097, SSM013, SSM009, SSM073, SSM074, SSM058, SSM028, SSM084, SSM021, SSM018, SSM069, SSM096, SSM062, SSM089, SSM017, SSM067, SSM001, SSM066, SSM085, SSM068, SSM040, SSM072, SSM007, SSM005, SSM080, SSM022, SSM010, SSM070, SSM025, SSM099, SSM043, SSM098, SSM056, SSM030, SSM012
Known GenesTREH
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)esv2745124
Frequency
Sample Size96
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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