A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10664874



Internal ID666690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:128092211..128094717hg38UCSC Ensembl
Innerchr2:128092219..128094709hg38UCSC Ensembl
Outerchr2:128092203..128094725hg38UCSC Ensembl
chr2:128849785..128852291hg19UCSC Ensembl
Innerchr2:128849793..128852283hg19UCSC Ensembl
Outerchr2:128849777..128852299hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg382507
hg192507
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592378
Supporting Variants
SamplesHG03108
Known GenesUGGT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10664874
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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