A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733110



Internal ID10316746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:163291041..163291505hg38UCSC Ensembl
Outerchr6:163712073..163712537hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38465
hg19465
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918968, essv6730997, essv6947933, essv6957231
SamplesSSM024, SSM047, SSM026, SSM017
Known GenesPACRG
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)esv2733110
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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