A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6938035



Internal ID9699616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:95918789..95920743hg38UCSC Ensembl
Outerchr2:96584537..96586491hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg381955
hg191955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2720400, esv2720402
Supporting Variants
SamplesSSM022
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)essv6938035
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