A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693598



Internal ID15074054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2572273..2574471hg38UCSC Ensembl
Innerchr2:2573273..2573471hg38UCSC Ensembl
Outerchr2:2571273..2575471hg38UCSC Ensembl
chr2:2576045..2578243hg19UCSC Ensembl
Innerchr2:2577045..2577243hg19UCSC Ensembl
Outerchr2:2575045..2579243hg19UCSC Ensembl
chr2:2555052..2557250hg18UCSC Ensembl
Innerchr2:2556052..2556250hg18UCSC Ensembl
Outerchr2:2554052..2558250hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3445825
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693598
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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