A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3366840



Internal ID14867099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:37183215..37183215hg38UCSC Ensembl
Innerchr7:37183214..37183216hg38UCSC Ensembl
Outerchr7:37183165..37183265hg38UCSC Ensembl
chr7:37222820..37222820hg19UCSC Ensembl
Innerchr7:37222819..37222821hg19UCSC Ensembl
Outerchr7:37222770..37222870hg19UCSC Ensembl
chr7:37189345..37189345hg18UCSC Ensembl
Innerchr7:37189346..37189344hg18UCSC Ensembl
Outerchr7:37189295..37189395hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg381166
hg191166
hg181166
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653514, essv8653515, essv8653513
SamplesNA12892, NA12891, NA12878
Known GenesELMO1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3366840
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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