A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6744697



Internal ID10152454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:9112143..9114482hg38UCSC Ensembl
Outerchr19:9222819..9225158hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382340
hg192340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718148
Supporting Variants
SamplesSSM053
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)essv6744697
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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