A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719739



Internal ID10303375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:16131387..16133741hg38UCSC Ensembl
Outerchr2:16271509..16273863hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382355
hg192355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756734, essv6733674, essv6972848, essv6742360, essv6840254, essv6914216, essv6697180, essv6714533, essv6886192, essv6759270, essv6667036
SamplesSSM059, SSM038, SSM084, SSM061, SSM029, SSM096, SSM016, SSM053, SSM043, SSM049, SSM030
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)esv2719739
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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