A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596240



Internal ID6983557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:58163783..58164719hg38UCSC Ensembl
Innerchr3:58163821..58164681hg38UCSC Ensembl
Outerchr3:58163745..58164757hg38UCSC Ensembl
chr3:58149510..58150446hg19UCSC Ensembl
Innerchr3:58149548..58150408hg19UCSC Ensembl
Outerchr3:58149472..58150484hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38937
hg19937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11021417, essv11021415, essv11021416
SamplesHG02040, HG03235, HG03882
Known GenesFLNB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596240
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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