A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9896437



Internal ID5181275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:32503882..32508520hg38UCSC Ensembl
Innerchr1:32504032..32508370hg38UCSC Ensembl
Outerchr1:32503732..32508670hg38UCSC Ensembl
chr1:32969483..32974121hg19UCSC Ensembl
Innerchr1:32969633..32973971hg19UCSC Ensembl
Outerchr1:32969333..32974271hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg384639
hg194639
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585671
Supporting Variants
SamplesNA18606
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9896437
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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