A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693478



Internal ID15117091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20164210..20166408hg38UCSC Ensembl
Innerchr2:20165210..20165408hg38UCSC Ensembl
Outerchr2:20163210..20167408hg38UCSC Ensembl
chr2:20363971..20366169hg19UCSC Ensembl
Innerchr2:20364971..20365169hg19UCSC Ensembl
Outerchr2:20362971..20367169hg19UCSC Ensembl
chr2:20227452..20229650hg18UCSC Ensembl
Innerchr2:20228452..20228650hg18UCSC Ensembl
Outerchr2:20226452..20230650hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446690
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693478
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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