A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6769293



Internal ID9826787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43260325..43260528hg38UCSC Ensembl
Outerchr19:43764477..43764680hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718603, esv2718594, esv2718599, esv2718609, esv2718605, esv2718608
Supporting Variants
SamplesSSM064
Known GenesPSG9
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)essv6769293
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