A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6703970



Internal ID9770369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:186870608..186870938hg38UCSC Ensembl
Outerchr1:186839740..186840070hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720350
Supporting Variants
SamplesSSM040
Known GenesPLA2G4A
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)essv6703970
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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