A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6704608



Internal ID9770942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101090763..101090935hg38UCSC Ensembl
Outerchr4:102011920..102012092hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728049, esv2728050
Supporting Variants
SamplesSSM040
Known GenesPPP3CA
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)essv6704608
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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