A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10079283



Internal ID5554533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114383056..114384362hg38UCSC Ensembl
Innerchr1:114383077..114384341hg38UCSC Ensembl
Outerchr1:114383035..114384383hg38UCSC Ensembl
chr1:114925678..114926984hg19UCSC Ensembl
Innerchr1:114925699..114926963hg19UCSC Ensembl
Outerchr1:114925657..114927005hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381307
hg191307
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587261
Supporting Variants
SamplesNA19007
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10079283
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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