A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728372



Internal ID10312008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:134668833..134669130hg38UCSC Ensembl
Outerchr4:135589988..135590285hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6825979, essv6907078, essv6926457, essv6813967, essv6686903, essv6956308
SamplesSSM026, SSM019, SSM035, SSM014, SSM080, SSM077
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)esv2728372
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer