A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722708



Internal ID9787234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:5833180..5833479hg38UCSC Ensembl
Outerchr4:5834907..5835206hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726978
Supporting Variants
SamplesSSM045
Known GenesCRMP1
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)essv6722708
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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