A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704461



Internal ID10117496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:789690..790284hg38UCSC Ensembl
Outerchr4:783478..784072hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726709
Supporting Variants
SamplesSSM040
Known GenesCPLX1
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)essv6704461
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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