A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726948



Internal ID10310584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3746404..3747228hg38UCSC Ensembl
Outerchr4:3748131..3748955hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38825
hg19825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880967, essv6882997, essv6973723, essv6770261, essv6733964, essv6938411, essv6899192, essv6918184, essv6683442, essv6798240, essv6872282, essv6956009
SamplesSSM100, SSM065, SSM029, SSM026, SSM017, SSM094, SSM072, SSM022, SSM091, SSM034, SSM049, SSM012
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)esv2726948
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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