A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724913



Internal ID9959215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:11604188..11605193hg38UCSC Ensembl
Outerchr3:11645662..11646667hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg381006
hg191006
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6899023, essv6881287, essv6733818, essv6745315, essv6917966, essv6922282, essv6711090, essv6801995
SamplesSSM100, SSM073, SSM042, SSM018, SSM017, SSM055, SSM049, SSM012
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)esv2724913
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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