A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10598703



Internal ID600519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105249771..105252048hg38UCSC Ensembl
Innerchr2:105249785..105252034hg38UCSC Ensembl
Outerchr2:105249757..105252062hg38UCSC Ensembl
chr2:105866228..105868505hg19UCSC Ensembl
Innerchr2:105866242..105868491hg19UCSC Ensembl
Outerchr2:105866214..105868519hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg382278
hg192278
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591827
Supporting Variants
SamplesNA19210
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10598703
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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