A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719987



Internal ID10303623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:42997104..42997627hg38UCSC Ensembl
Outerchr2:43224244..43224767hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38524
hg19524
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864322
SamplesSSM089
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)esv2719987
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