A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6736551



Internal ID10146378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:20405921..20406794hg38UCSC Ensembl
Outerchr4:20407544..20408417hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727260
Supporting Variants
SamplesSSM050
Known GenesSLIT2
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)essv6736551
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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