A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858830



Internal ID9909745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53555046..53555496hg38UCSC Ensembl
Outerchr19:54058300..54058750hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718812, esv2718828
Supporting Variants
SamplesSSM087
Known GenesZNF331
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)essv6858830
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