A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726055



Internal ID9960361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151312522..151314746hg38UCSC Ensembl
Outerchr3:151030310..151032534hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg382225
hg192225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6711212
SamplesSSM042
Known GenesGPR87, MED12L
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)esv2726055
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