A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720733



Internal ID10304369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127979510..127979699hg38UCSC Ensembl
Outerchr2:128737084..128737273hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853807, essv6832938
SamplesSSM087, SSM082
Known GenesSAP130
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)esv2720733
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer