A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726018



Internal ID10309654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:145428627..145429252hg38UCSC Ensembl
Outerchr3:145146414..145147039hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38626
hg19626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6742610, essv6942543, essv6762221, essv6840579, essv6962568, essv6872203, essv6714862, essv6753994, essv6770158, essv6699554
SamplesSSM027, SSM065, SSM023, SSM058, SSM084, SSM062, SSM006, SSM053, SSM091, SSM043
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)esv2726018
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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