A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737255



Internal ID10320891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:84286888..84287713hg38UCSC Ensembl
Outerchr8:85199123..85199948hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38826
hg19826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948454, essv6677208, essv6935437, essv6934052, essv6964789, essv6838055, essv6787119, essv6694890, essv6904367, essv6873263, essv6919553, essv6850214, essv6740548, essv6823034, essv6894112, essv6712468, essv6911992, essv6705677, essv6931172, essv6939702, essv6923692, essv6766687, essv6876224, essv6927406, essv6970120, essv6893754, essv6803061, essv6870297, essv6716184, essv6814917, essv6672145, essv6731522, essv6856241, essv6799575, essv6708994, essv6944223, essv6720100, essv6768046, essv6791222, essv6775171, essv6771474, essv6795381, essv6915637, essv6701790, essv6830767, essv6782913, essv6841876, essv6827079, essv6733876, essv6976008, essv6778858, essv6681036
SamplesSSM008, SSM083, SSM071, SSM027, SSM024, SSM064, SSM079, SSM065, SSM087, SSM039, SSM013, SSM073, SSM042, SSM041, SSM023, SSM028, SSM092, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM029, SSM017, SSM019, SSM032, SSM003, SSM031, SSM067, SSM044, SSM086, SSM033, SSM066, SSM068, SSM081, SSM040, SSM072, SSM020, SSM007, SSM015, SSM016, SSM080, SSM037, SSM077, SSM022, SSM091, SSM070, SSM043, SSM052, SSM098, SSM012
Known GenesRALYL
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)esv2737255
Frequency
Sample Size96
Observed Gain0
Observed Loss52
Observed Complex0
Frequencyn/a


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