A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13167933



Internal ID3169749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:35525548..35526810hg38UCSC Ensembl
Innerchr8:35525598..35526760hg38UCSC Ensembl
Outerchr8:35525480..35526878hg38UCSC Ensembl
chr8:35383066..35384328hg19UCSC Ensembl
Innerchr8:35383116..35384278hg19UCSC Ensembl
Outerchr8:35382998..35384396hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381263
hg191263
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616886
Supporting Variants
SamplesHG01858
Known GenesUNC5D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13167933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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