A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671000



Internal ID14753817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159938293..159938592hg38UCSC Ensembl
Innerchr2:159938436..159938447hg38UCSC Ensembl
Outerchr2:159938148..159938735hg38UCSC Ensembl
chr2:160794804..160795103hg19UCSC Ensembl
Innerchr2:160794947..160794958hg19UCSC Ensembl
Outerchr2:160794659..160795246hg19UCSC Ensembl
chr2:160503050..160503349hg18UCSC Ensembl
Innerchr2:160503193..160503204hg18UCSC Ensembl
Outerchr2:160502905..160503492hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425902
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671000
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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