A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667259



Internal ID10084343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16942702..16949029hg38UCSC Ensembl
Outerchr4:16944325..16950652hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg386328
hg196328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727234
Supporting Variants
SamplesSSM030
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)essv6667259
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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