A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721777



Internal ID10305413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238633485..238633777hg38UCSC Ensembl
Outerchr2:239542126..239542418hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6880954
SamplesSSM012
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)esv2721777
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