A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726039



Internal ID10309675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149245562..149251920hg38UCSC Ensembl
Outerchr3:148963349..148969707hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg386359
hg196359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872208, essv6798126, essv6929747, essv6686672, essv6670004, essv6699610, essv6804921, essv6781538, essv6821785, essv6848063, essv6683374, essv6817352, essv6829585, essv6723565
SamplesSSM079, SSM074, SSM035, SSM031, SSM086, SSM006, SSM068, SSM081, SSM072, SSM020, SSM007, SSM078, SSM091, SSM034
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)esv2726039
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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