A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725160



Internal ID10308796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38113480..38113650hg38UCSC Ensembl
Outerchr3:38154971..38155141hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825574, essv6962434, essv6955693, essv6669848, essv6973392
SamplesSSM027, SSM029, SSM026, SSM031, SSM080
Known GenesDLEC1
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)esv2725160
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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