A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9941830



Internal ID4884366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:58701180..58702022hg38UCSC Ensembl
Innerchr1:58701180..58702022hg38UCSC Ensembl
Outerchr1:58700984..58702271hg38UCSC Ensembl
chr1:59166852..59167694hg19UCSC Ensembl
Innerchr1:59166852..59167694hg19UCSC Ensembl
Outerchr1:59166656..59167943hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38843
hg19843
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586169
Supporting Variants
SamplesNA12399
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9941830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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