A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725758



Internal ID9960064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:109328018..109328896hg38UCSC Ensembl
Outerchr3:109046865..109047743hg19UCSC Ensembl
Cytoband3q13.13
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6718711
SamplesSSM044
Known GenesDPPA4
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)esv2725758
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