A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13161437



Internal ID3163253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:33306382..33310499hg38UCSC Ensembl
Innerchr8:33306402..33310480hg38UCSC Ensembl
Outerchr8:33306363..33310519hg38UCSC Ensembl
chr8:33163900..33168017hg19UCSC Ensembl
Innerchr8:33163920..33167998hg19UCSC Ensembl
Outerchr8:33163881..33168037hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg384118
hg194118
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616830
Supporting Variants
SamplesNA12044
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13161437
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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