A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6686528



Internal ID10103017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:205988806..205988958hg38UCSC Ensembl
Outerchr2:206853530..206853682hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721391
Supporting Variants
SamplesSSM035
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)essv6686528
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