A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720409



Internal ID9954705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:96085195..96085287hg38UCSC Ensembl
Outerchr2:96750943..96751035hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962097, essv6955345, essv6859583, essv6853755, essv6847569, essv6816980, essv6864383, essv6669526
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM031, SSM086, SSM078
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)esv2720409
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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