A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6757051



Internal ID10166306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:59518709..59519248hg38UCSC Ensembl
Outerchr4:60384427..60384966hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727668, esv2727666, esv2727667
Supporting Variants
SamplesSSM059
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)essv6757051
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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