A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13317983



Internal ID5945570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126618377..126621993hg38UCSC Ensembl
Innerchr8:126618387..126621984hg38UCSC Ensembl
Outerchr8:126618368..126622003hg38UCSC Ensembl
chr8:127630622..127634238hg19UCSC Ensembl
Innerchr8:127630632..127634229hg19UCSC Ensembl
Outerchr8:127630613..127634248hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg383617
hg193617
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618753
Supporting Variants
SamplesNA19355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13317983
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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