A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2729605



Internal ID10313241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2784544..2784669hg38UCSC Ensembl
Outerchr5:2784658..2784783hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6687014, essv6817840
SamplesSSM035, 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)esv2729605
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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