A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726089



Internal ID10309725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:155692976..155693541hg38UCSC Ensembl
Outerchr3:155410765..155411330hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg38566
hg19566
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762228, essv6807888, essv6764589, essv6683380, essv6733904, essv6906789, essv6759533, essv6756961, essv6675838, essv6886452, essv6793974, essv6859978, essv6753998, essv6869194, essv6686675, essv6751089, essv6718751, essv6673732, essv6864762, essv6836771
SamplesSSM059, SSM083, SSM071, SSM075, SSM088, SSM057, SSM058, SSM090, SSM061, SSM096, SSM062, SSM089, SSM035, SSM032, SSM044, SSM014, SSM005, SSM034, SSM049, SSM063
Known GenesPLCH1
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)esv2726089
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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