A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3334717



Internal ID15181706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197697086..197697100hg38UCSC Ensembl
Innerchr1:197697061..197697125hg38UCSC Ensembl
Outerchr1:197697047..197697139hg38UCSC Ensembl
chr1:197666216..197666230hg19UCSC Ensembl
Innerchr1:197666191..197666255hg19UCSC Ensembl
Outerchr1:197666177..197666269hg19UCSC Ensembl
chr1:195932839..195932853hg18UCSC Ensembl
Innerchr1:195932878..195932814hg18UCSC Ensembl
Outerchr1:195932800..195932892hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863800
SamplesNA12005
Known GenesDENND1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3334717
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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