A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10355401



Internal ID357217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241608121..241609393hg38UCSC Ensembl
Innerchr1:241608145..241609370hg38UCSC Ensembl
Outerchr1:241608098..241609417hg38UCSC Ensembl
chr1:241771423..241772695hg19UCSC Ensembl
Innerchr1:241771447..241772672hg19UCSC Ensembl
Outerchr1:241771400..241772719hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg381273
hg191273
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589345
Supporting Variants
SamplesNA19378
Known GenesOPN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10355401
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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