A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6869190



Internal ID10265754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:149550705..149552297hg38UCSC Ensembl
Outerchr3:149268492..149270084hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg381593
hg191593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726042
Supporting Variants
SamplesSSM090
Known GenesWWTR1
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)essv6869190
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