A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726709



Internal ID10310345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:789485..790516hg38UCSC Ensembl
Outerchr4:783273..784304hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381032
hg191032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6704461, essv6757000, essv6742660, essv6872268, essv6973688, essv6748300, essv6864838, essv6962691, essv6804973
SamplesSSM059, SSM027, SSM074, SSM029, SSM089, SSM040, SSM053, SSM091, SSM056
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)esv2726709
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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