A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742565



Internal ID10296681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:2468229..2468828hg38UCSC Ensembl
Outerchr6:2468463..2469062hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv983e201
Supporting Variantsessv6887264
SamplesSSM012
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)esv2742565
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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