A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726175



Internal ID10309811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:168385478..168385789hg38UCSC Ensembl
Outerchr3:168103266..168103577hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6679791, essv6922429
SamplesSSM018, SSM033
Known GenesEGFEM1P
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)esv2726175
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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