A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6747614



Internal ID9807327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54724581..54725374hg38UCSC Ensembl
Outerchr19:55236086..55236840hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38794
hg19755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718872, esv2718910
Supporting Variants
SamplesSSM055
Known GenesKIR3DL3
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)essv6747614
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