A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6790243



Internal ID10005303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195698926..195699572hg38UCSC Ensembl
Outerchr3:195425797..195426443hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38647
hg19647
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726477
Supporting Variants
SamplesSSM009
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)essv6790243
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