A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804945



Internal ID10209958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:182727242..182727658hg38UCSC Ensembl
Outerchr3:182445030..182445446hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38417
hg19417
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726287
Supporting Variants
SamplesSSM074
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)essv6804945
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