A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941372



Internal ID9702697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:602720..603535hg38UCSC Ensembl
Outerchr19:602720..603535hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717745
Supporting Variants
SamplesSSM022
Known GenesHCN2
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)essv6941372
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