A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616830



Internal ID6657026
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13161438, essv13161437, essv13161439
SamplesNA19720, NA12044, NA20763
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616830
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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