A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816906



Internal ID10222148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:16108126..16111248hg38UCSC Ensembl
Outerchr2:16248248..16251370hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg383123
hg193123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719736
Supporting Variants
SamplesSSM078
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)essv6816906
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