A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724914



Internal ID9959216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11604904..11605488hg38UCSC Ensembl
Outerchr3:11646378..11646962hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813612, essv6955644, essv6926123, essv6753909, essv6973338, essv6880793
SamplesSSM058, SSM029, SSM026, SSM019, SSM094, SSM077
Known GenesVGLL4
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)esv2724914
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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