A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725734



Internal ID10309370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:105280465..105281118hg38UCSC Ensembl
Outerchr3:104999309..104999962hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg38654
hg19654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859925, essv6751050, essv6759494, essv6973505, essv6955798, essv6854159, essv6762196, essv6864718, essv6847999, essv6918053, essv6962520, essv6669945, essv6733874, essv6906743, essv6817306, essv6739349, essv6753967
SamplesSSM027, SSM087, SSM088, SSM057, SSM058, SSM061, SSM029, SSM062, SSM026, SSM089, SSM017, SSM031, SSM014, SSM086, SSM078, SSM052, 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)esv2725734
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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