A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724912



Internal ID9959214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11573075..11573751hg38UCSC Ensembl
Outerchr3:11614549..11615225hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6730104, essv6892772, essv6714749, essv6726354, essv6813611, essv6742533, essv6753309, essv6781429
SamplesSSM008, SSM046, SSM047, SSM068, SSM053, SSM077, SSM043, SSM098
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)esv2724912
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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