A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6973622



Internal ID9731211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:186113471..186113618hg38UCSC Ensembl
Outerchr3:185831260..185831407hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726331, esv2726330
Supporting Variants
SamplesSSM029
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)essv6973622
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