A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6962702



Internal ID9721831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1240373..1240587hg38UCSC Ensembl
Outerchr4:1234161..1234375hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38215
hg19215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726769
Supporting Variants
SamplesSSM027
Known GenesCTBP1
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)essv6962702
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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