A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585817



Internal ID6973337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40953598..40956124hg38UCSC Ensembl
Innerchr1:40953624..40956099hg38UCSC Ensembl
Outerchr1:40953573..40956150hg38UCSC Ensembl
chr1:41419270..41421796hg19UCSC Ensembl
Innerchr1:41419296..41421771hg19UCSC Ensembl
Outerchr1:41419245..41421822hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382527
hg192527
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9917070, essv9917077, essv9917078, essv9917074, essv9917075, essv9917072, essv9917068, essv9917064, essv9917069, essv9917073, essv9917066, essv9917071, essv9917067, essv9917079, essv9917076, essv9917065
SamplesHG03821, NA21099, NA20899, HG04018, HG03754, HG03604, HG03826, HG03693, HG03750, HG03585, NA20892, HG02728, HG02789, HG04118, NA21117, HG04153
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585817
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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