A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728247



Internal ID3278743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120887780..120888089hg38UCSC Ensembl
Outerchr4:121808935..121809244hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962991, essv6973988, essv6881114, essv6798415, essv6907057, essv6956280, essv6670431, essv6817664, essv6860294, essv6865083, essv6785970
SamplesSSM027, SSM078, SSM088, SSM089, SSM031, SSM072, SSM094, SSM029, SSM069, SSM026, SSM014
Known GenesPRDM5
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)esv2728247
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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