A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721358



Internal ID9955654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200771705..200771768hg38UCSC Ensembl
Outerchr2:201636428..201636491hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847729
SamplesSSM086
Known GenesAOX2P
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)esv2721358
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