A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670457



Internal ID10087086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:133216551..133216602hg38UCSC Ensembl
Outerchr4:134137706..134137757hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728355, esv2728357, esv2728358
Supporting Variants
SamplesSSM031
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)essv6670457
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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