A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8808946



Internal ID13647036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210653802..210654125hg38UCSC Ensembl
Innerchr1:210653801..210654126hg38UCSC Ensembl
Outerchr1:210653692..210654245hg38UCSC Ensembl
chr1:210827146..210827469hg19UCSC Ensembl
Innerchr1:210827145..210827470hg19UCSC Ensembl
Outerchr1:210827036..210827589hg19UCSC Ensembl
chr1:208893769..208894092hg18UCSC Ensembl
Innerchr1:208894093..208893768hg18UCSC Ensembl
Outerchr1:208893659..208894212hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38324
hg19324
hg18324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3353042
Supporting Variants
SamplesNA12878
Known GenesHHAT
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8808946
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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