A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10862187



Internal ID864003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222666972..222675602hg38UCSC Ensembl
Innerchr2:222666987..222675587hg38UCSC Ensembl
Outerchr2:222666957..222675617hg38UCSC Ensembl
chr2:223531691..223540321hg19UCSC Ensembl
Innerchr2:223531706..223540306hg19UCSC Ensembl
Outerchr2:223531676..223540336hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg388631
hg198631
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594427
Supporting Variants
SamplesHG01699
Known GenesMOGAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10862187
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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