A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6762273



Internal ID10170745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3509025..3509672hg38UCSC Ensembl
Outerchr4:3510752..3511399hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38648
hg19648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726900
Supporting Variants
SamplesSSM062
Known GenesLRPAP1
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)essv6762273
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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