A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586324



Internal ID6973845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68608149..68609368hg38UCSC Ensembl
Innerchr1:68608149..68609368hg38UCSC Ensembl
Outerchr1:68607984..68609549hg38UCSC Ensembl
chr1:69073832..69075051hg19UCSC Ensembl
Innerchr1:69073832..69075051hg19UCSC Ensembl
Outerchr1:69073667..69075232hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg381220
hg191220
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9961260, essv9961265, essv9961261, essv9961264, essv9961263, essv9961262
SamplesHG01054, HG03499, HG01242, NA19225, NA18858, HG03469
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586324
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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