A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726310



Internal ID10309946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184670403..184670979hg38UCSC Ensembl
Outerchr3:184388191..184388767hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38577
hg19577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6922447, essv6840606, essv6962615, essv6882431, essv6798158, essv6973615, essv6693507, essv6968658, essv6955892, essv6933999, essv6707845, essv6929774
SamplesSSM027, SSM041, SSM028, SSM084, SSM021, SSM018, SSM029, SSM026, SSM072, SSM020, SSM037, 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)esv2726310
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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