A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734157



Internal ID10317793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:26201844..26208402hg38UCSC Ensembl
Outerchr7:26241464..26248022hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg386559
hg196559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690683, essv6676794, essv6734511, essv6719645, essv6680454, essv6799101, essv6837659, essv6712054, essv6907792, essv6934997, essv6968817, essv6705098, essv6861128, essv6794888, essv6869942, essv6757550, essv6881585
SamplesSSM059, SSM036, SSM083, SSM071, SSM042, SSM088, SSM090, SSM021, SSM094, SSM032, SSM044, SSM001, SSM014, SSM006, SSM072, SSM005, SSM049
Known GenesCBX3
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)esv2734157
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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