A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734865



Internal ID10318501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:98139951..98140526hg38UCSC Ensembl
Outerchr7:97769263..97769838hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38576
hg19576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719750, essv6964244, essv6740267
SamplesSSM027, SSM044, SSM052
Known GenesLMTK2
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)esv2734865
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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