A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837031



Internal ID15038280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84588871..84588872hg38UCSC Ensembl
Innerchr1:84588845..84588898hg38UCSC Ensembl
Outerchr1:84588844..84588899hg38UCSC Ensembl
chr1:85054554..85054555hg19UCSC Ensembl
Innerchr1:85054528..85054581hg19UCSC Ensembl
Outerchr1:85054527..85054582hg19UCSC Ensembl
chr1:84827142..84827143hg18UCSC Ensembl
Innerchr1:84827169..84827116hg18UCSC Ensembl
Outerchr1:84827115..84827170hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38280
hg19280
hg18280
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308575
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837031
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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