A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7746407



Internal ID14361738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100701811..100701812hg38UCSC Ensembl
Innerchr1:100701748..100701875hg38UCSC Ensembl
Outerchr1:100701747..100701876hg38UCSC Ensembl
chr1:101167367..101167368hg19UCSC Ensembl
Innerchr1:101167304..101167431hg19UCSC Ensembl
Outerchr1:101167303..101167432hg19UCSC Ensembl
chr1:100939955..100939956hg18UCSC Ensembl
Innerchr1:100940019..100939892hg18UCSC Ensembl
Outerchr1:100939891..100940020hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38232
hg19232
hg18232
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305384
Supporting Variants
SamplesNA18858
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7746407
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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