A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718765



Internal ID10302401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51077711..51077868hg38UCSC Ensembl
Outerchr19:51580968..51581125hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv528e201
Supporting Variantsessv6967535, essv6820925, essv6710363
SamplesSSM027, SSM041, SSM078
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)esv2718765
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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