A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719814



Internal ID10303450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:24164389..24164806hg38UCSC Ensembl
Outerchr2:24387258..24387675hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693097, essv6669420, essv6922026
SamplesSSM018, SSM031, SSM037
Known GenesFAM228B
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)esv2719814
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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