A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726125



Internal ID10309761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:161917481..161918080hg38UCSC Ensembl
Outerchr3:161635269..161635868hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733908, essv6848074, essv6670022, essv6962589, essv6854228, essv6817363
SamplesSSM027, SSM087, SSM031, SSM086, SSM078, SSM049
Known Genes
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)esv2726125
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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