A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9920858



Internal ID3202664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42804582..42805847hg38UCSC Ensembl
Innerchr1:42804584..42805846hg38UCSC Ensembl
Outerchr1:42804581..42805849hg38UCSC Ensembl
chr1:43270253..43271518hg19UCSC Ensembl
Innerchr1:43270255..43271517hg19UCSC Ensembl
Outerchr1:43270252..43271520hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg381266
hg191266
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585853
Supporting Variants
SamplesHG02811
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9920858
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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