A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6669943



Internal ID10087549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:104697470..104697560hg38UCSC Ensembl
Outerchr3:104416314..104416404hg19UCSC Ensembl
Cytoband3q13.11
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2725730, esv2725731
Supporting Variants
SamplesSSM031
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)essv6669943
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