A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728484



Internal ID10312120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:144313994..144314444hg38UCSC Ensembl
Outerchr4:145235146..145235596hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv852e201
Supporting Variantsessv6938592, essv6774262, essv6798440, essv6829810, essv6693759, essv6963031
SamplesSSM027, SSM066, SSM081, SSM072, SSM037, SSM022
Known Genes
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)esv2728484
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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