A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6694232



Internal ID9647508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42817039..42985694hg38UCSC Ensembl
Outerchr19:43321191..43489846hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38168656
hg19168656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718594, esv2718593, esv2718595
Supporting Variants
SamplesSSM005
Known GenesLOC100289650, PSG1, PSG10P, PSG6, PSG7
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)essv6694232
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