A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6884154



Internal ID9667048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101039013..101040023hg38UCSC Ensembl
Outerchr4:101960170..101961180hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728048
Supporting Variants
SamplesSSM012
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)essv6884154
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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