A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6947191



Internal ID10056835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195698996..195699499hg38UCSC Ensembl
Outerchr3:195425867..195426370hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726484, esv2726477
Supporting Variants
SamplesSSM024
Known GenesMIR570
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)essv6947191
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