A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13208820



Internal ID6926358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59470733..59491757hg38UCSC Ensembl
Innerchr8:59470761..59491730hg38UCSC Ensembl
Outerchr8:59470706..59491785hg38UCSC Ensembl
chr8:60383292..60404316hg19UCSC Ensembl
Innerchr8:60383320..60404289hg19UCSC Ensembl
Outerchr8:60383265..60404344hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3821025
hg1921025
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617355
Supporting Variants
SamplesNA21120
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13208820
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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