A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748531



Internal ID10329501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:28678374..28683119hg38UCSC Ensembl
Outerchr14:29147580..29152325hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384746
hg194746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6891496
SamplesSSM097
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)esv2748531
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