A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741056



Internal ID10295172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:68580873..68676340hg38UCSC Ensembl
Outerchr4:69446591..69542058hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3895468
hg1995468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv843e201
Supporting Variantsessv6707981
SamplesSSM041
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)esv2741056
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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