A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6785705



Internal ID9843931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:169472532..169472675hg38UCSC Ensembl
Outerchr3:169190320..169190463hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38144
hg19144
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726184, esv2726183, esv2726186
Supporting Variants
SamplesSSM069
Known GenesMECOM
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)essv6785705
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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