A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725215



Internal ID9959519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:44889117..44891160hg38UCSC Ensembl
Outerchr3:44930609..44932652hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg382044
hg192044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910602
SamplesSSM015
Known GenesTGM4
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)esv2725215
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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