A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306276



Internal ID15153224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:84588874..84588875hg38UCSC Ensembl
Innerchr1:84588837..84588912hg38UCSC Ensembl
Outerchr1:84588836..84588913hg38UCSC Ensembl
chr1:85054557..85054558hg19UCSC Ensembl
Innerchr1:85054520..85054595hg19UCSC Ensembl
Outerchr1:85054519..85054596hg19UCSC Ensembl
chr1:84827145..84827146hg18UCSC Ensembl
Innerchr1:84827183..84827108hg18UCSC Ensembl
Outerchr1:84827107..84827184hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38181
hg19181
hg18181
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756147, essv7755106, essv7750149, essv7761790, essv7746095, essv7749694
SamplesNA18870, NA19238, NA19239, NA18523, NA19240, NA19093
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306276
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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