A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725730



Internal ID10309366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:104697076..104697885hg38UCSC Ensembl
Outerchr3:104415920..104416729hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764552, essv6854158, essv6733873, essv6859924, essv6669943, essv6881998, essv6973504, essv6837042, essv6962519, essv6817305, essv6751049, essv6748213, essv6847996, essv6864717, essv6756933, essv6955797
SamplesSSM059, SSM027, SSM087, SSM088, SSM002, SSM057, SSM029, SSM026, SSM089, SSM031, SSM086, SSM078, SSM049, SSM056, SSM063, SSM012
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)esv2725730
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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