A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6715110



Internal ID9780394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:138045040..138046050hg38UCSC Ensembl
Outerchr4:138966194..138967204hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg381011
hg191011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728410
Supporting Variants
SamplesSSM043
Known GenesLINC00616
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)essv6715110
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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