A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10355402



Internal ID357218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241609305..241626250hg38UCSC Ensembl
Innerchr1:241609305..241626250hg38UCSC Ensembl
Outerchr1:241608805..241626750hg38UCSC Ensembl
chr1:241772607..241789552hg19UCSC Ensembl
Innerchr1:241772607..241789552hg19UCSC Ensembl
Outerchr1:241772107..241790052hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3816946
hg1916946
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589346
Supporting Variants
SamplesHG01630
Known GenesOPN3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10355402
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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