A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6860099



Internal ID10260100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14187134..14187200hg38UCSC Ensembl
Outerchr4:14188758..14188824hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727201, esv2727202
Supporting Variants
SamplesSSM088
Known Genes
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)essv6860099
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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