A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7809841



Internal ID13617348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221795812..221795813hg38UCSC Ensembl
Innerchr1:221795795..221795830hg38UCSC Ensembl
Outerchr1:221795794..221795831hg38UCSC Ensembl
chr1:221969154..221969155hg19UCSC Ensembl
Innerchr1:221969137..221969172hg19UCSC Ensembl
Outerchr1:221969136..221969173hg19UCSC Ensembl
chr1:220035777..220035778hg18UCSC Ensembl
Innerchr1:220035795..220035760hg18UCSC Ensembl
Outerchr1:220035759..220035796hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38307
hg19307
hg18307
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305257
Supporting Variants
SamplesNA12872
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7809841
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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