A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743067



Internal ID10297183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68569025..68671295hg38UCSC Ensembl
Outerchr4:69434743..69537013hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38102271
hg19102271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv843e201
Supporting Variantsessv6942803
SamplesSSM023
Known GenesUGT2B15
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)esv2743067
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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