A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720968



Internal ID9955264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:152348822..152349132hg38UCSC Ensembl
Outerchr2:153205336..153205646hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847475, essv6906520, essv6962197, essv6785428, essv6836581, essv6886276
SamplesSSM027, SSM083, SSM011, SSM069, SSM096, SSM014
Known GenesFMNL2
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)esv2720968
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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