A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594452



Internal ID6981772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223754506..223755107hg38UCSC Ensembl
Innerchr2:223754530..223755083hg38UCSC Ensembl
Outerchr2:223754482..223755131hg38UCSC Ensembl
chr2:224619223..224619824hg19UCSC Ensembl
Innerchr2:224619247..224619800hg19UCSC Ensembl
Outerchr2:224619199..224619848hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10865061, essv10865064, essv10865062, essv10865060, essv10865063
SamplesNA19909, NA18870, NA19455, NA19375, NA19835
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594452
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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