A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13270990



Internal ID3272806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102659191..102675397hg38UCSC Ensembl
Innerchr8:102659241..102675347hg38UCSC Ensembl
Outerchr8:102659141..102675447hg38UCSC Ensembl
chr8:103671419..103687625hg19UCSC Ensembl
Innerchr8:103671469..103687575hg19UCSC Ensembl
Outerchr8:103671369..103687675hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3816207
hg1916207
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618232
Supporting Variants
SamplesHG03709
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13270990
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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