A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599008



Internal ID6986056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187246651..187247918hg38UCSC Ensembl
Innerchr3:187246688..187247881hg38UCSC Ensembl
Outerchr3:187246614..187247955hg38UCSC Ensembl
chr3:186964439..186965706hg19UCSC Ensembl
Innerchr3:186964476..186965669hg19UCSC Ensembl
Outerchr3:186964402..186965743hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11261074, essv11261073
SamplesNA18550, NA20764
Known GenesMASP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599008
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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