A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720456



Internal ID9954752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102002093..102003406hg38UCSC Ensembl
Outerchr2:102618555..102619868hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669534, essv6910419, essv6742412, essv6972989
SamplesSSM029, SSM031, SSM015, SSM053
Known GenesIL1R2
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)esv2720456
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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