A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310137



Internal ID14810402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170994902..170994903hg38UCSC Ensembl
Innerchr1:170994882..170994923hg38UCSC Ensembl
Outerchr1:170994881..170994924hg38UCSC Ensembl
chr1:170964043..170964044hg19UCSC Ensembl
Innerchr1:170964023..170964064hg19UCSC Ensembl
Outerchr1:170964022..170964065hg19UCSC Ensembl
chr1:169230667..169230668hg18UCSC Ensembl
Innerchr1:169230688..169230647hg18UCSC Ensembl
Outerchr1:169230646..169230689hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7840565, essv7840411
SamplesNA12891, NA12878
Known GenesMROH9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310137
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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