A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6892079



Internal ID9939666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15887250..15887711hg38UCSC Ensembl
Outerchr19:15998060..15998521hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718252, esv2718244
Supporting Variants
SamplesSSM097
Known GenesCYP4F2
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)essv6892079
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