A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720549



Internal ID9954845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113130606..113130792hg38UCSC Ensembl
Outerchr2:113888183..113888369hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6864403, essv6906466, essv6968347, essv6859602
SamplesSSM088, SSM028, SSM089, SSM014
Known GenesIL1RN
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)esv2720549
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