A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7746187



Internal ID15088875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43376698..43376699hg38UCSC Ensembl
Innerchr1:43376635..43376762hg38UCSC Ensembl
Outerchr1:43376634..43376763hg38UCSC Ensembl
chr1:43842369..43842370hg19UCSC Ensembl
Innerchr1:43842306..43842433hg19UCSC Ensembl
Outerchr1:43842305..43842434hg19UCSC Ensembl
chr1:43614956..43614957hg18UCSC Ensembl
Innerchr1:43615020..43614893hg18UCSC Ensembl
Outerchr1:43614892..43615021hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38234
hg19234
hg18234
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306233
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7746187
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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