A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6666434



Internal ID9733253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21776869..21777076hg38UCSC Ensembl
Outerchr19:21959671..21959878hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718335, esv2718343, esv2718345, esv2718337, esv2718342
Supporting Variants
SamplesSSM029
Known Genes
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)essv6666434
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