A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8904902



Internal ID13822546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21553830..21553854hg38UCSC Ensembl
Innerchr2:21553833..21553848hg38UCSC Ensembl
Outerchr2:21553812..21553872hg38UCSC Ensembl
chr2:21776702..21776726hg19UCSC Ensembl
Innerchr2:21776705..21776720hg19UCSC Ensembl
Outerchr2:21776684..21776744hg19UCSC Ensembl
chr2:21630207..21630231hg18UCSC Ensembl
Innerchr2:21630225..21630210hg18UCSC Ensembl
Outerchr2:21630189..21630249hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38209
hg19209
hg18209
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3343666
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8904902
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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