A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6892953



Internal ID9940454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1671229..1671755hg38UCSC Ensembl
Outerchr4:1672956..1673482hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726828
Supporting Variants
SamplesSSM098
Known GenesFAM53A
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)essv6892953
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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