A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6878257



Internal ID9927228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79439478..79441564hg38UCSC Ensembl
Outerchr4:80360632..80362718hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg382087
hg192087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727863, esv2727859
Supporting Variants
SamplesSSM093
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)essv6878257
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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