A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7840565



Internal ID13352081
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 StatusS
Merged Variantsesv3310137
Supporting Variants
SamplesNA12891
Known GenesMROH9
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7840565
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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