A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6962691



Internal ID10068507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:789968..790048hg38UCSC Ensembl
Outerchr4:783756..783836hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726709, esv2726710
Supporting Variants
SamplesSSM027
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)essv6962691
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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