A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737946



Internal ID10321582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143014594..143014933hg38UCSC Ensembl
Outerchr8:144096011..144096350hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720175, essv6672260, essv6778920, essv6694963, essv6775218, essv6948521, essv6787183, essv6964894
SamplesSSM027, SSM024, SSM069, SSM031, SSM067, SSM044, SSM066, SSM037
Known GenesLOC100133669
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)esv2737946
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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