A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13209751



Internal ID6603056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:59930723..59955870hg38UCSC Ensembl
Innerchr8:59930768..59955826hg38UCSC Ensembl
Outerchr8:59930679..59955915hg38UCSC Ensembl
chr8:60843282..60868429hg19UCSC Ensembl
Innerchr8:60843327..60868385hg19UCSC Ensembl
Outerchr8:60843238..60868474hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3825148
hg1925148
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617366
Supporting Variants
SamplesNA20772
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13209751
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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