A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10299398



Internal ID6277537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220897698..220898751hg38UCSC Ensembl
Innerchr1:220897748..220898701hg38UCSC Ensembl
Outerchr1:220897568..220898881hg38UCSC Ensembl
chr1:221071040..221072093hg19UCSC Ensembl
Innerchr1:221071090..221072043hg19UCSC Ensembl
Outerchr1:221070910..221072223hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588909
Supporting Variants
SamplesNA19794
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10299398
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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