A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6924496



Internal ID9987412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:133216509..133216688hg38UCSC Ensembl
Outerchr4:134137664..134137843hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728356, esv2728355
Supporting Variants
SamplesSSM003
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)essv6924496
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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