A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734832



Internal ID3285328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:94421648..94421790hg38UCSC Ensembl
Outerchr7:94050960..94051102hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6676886
SamplesSSM032
Known GenesCOL1A2
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)esv2734832
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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