A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719195



Internal ID3269691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167239626..167242445hg38UCSC Ensembl
Outerchr1:167208863..167211682hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg382820
hg192820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669150
SamplesSSM031
Known GenesPOU2F1
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)esv2719195
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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