A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734891



Internal ID9969221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100358602..100374075hg38UCSC Ensembl
Outerchr7:99956225..99971698hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3815474
hg1915474
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6963917, essv6802808, essv6705676, essv6748973
SamplesSSM073, SSM006, SSM004, SSM056
Known GenesPILRA, PILRB, STAG3L5P-PVRIG2P-PILRB
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)esv2734891
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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