A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6766397



Internal ID9826453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55093361..55094028hg38UCSC Ensembl
Outerchr19:55604729..55605396hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38668
hg19668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718872, esv2718946
Supporting Variants
SamplesSSM063
Known GenesPPP1R12C
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)essv6766397
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