A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718255



Internal ID10301891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:16033496..16033655hg38UCSC Ensembl
Outerchr19:16144306..16144465hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6868383, essv6863579, essv6689047, essv6858729, essv6960974, essv6852772, essv6967456
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM035, SSM086
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)esv2718255
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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