A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734158



Internal ID10317794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:26206482..26208404hg38UCSC Ensembl
Outerchr7:26246102..26248024hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6811471, essv6690683, essv6705237, essv6676794, essv6719645, essv6890385, essv6856787, essv6680454, essv6799101, essv6837659, essv6712054, essv6907792, essv6943693, essv6701337, essv6808591, essv6861128, essv6794888, essv6869942, essv6881585
SamplesSSM036, SSM083, SSM071, SSM075, SSM011, SSM097, SSM039, SSM042, SSM088, SSM023, SSM090, SSM094, SSM032, SSM044, SSM014, SSM040, SSM072, SSM005, SSM076
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)esv2734158
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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