A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6792985



Internal ID9849319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53113235..53113615hg38UCSC Ensembl
Outerchr19:53616488..53616868hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718811, esv2718787, esv2718810
Supporting Variants
SamplesSSM070
Known GenesZNF415
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)essv6792985
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