A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13266940



Internal ID3268757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97107517..97107871hg38UCSC Ensembl
Innerchr8:97107517..97107871hg38UCSC Ensembl
Outerchr8:97107349..97108041hg38UCSC Ensembl
chr8:98119745..98120099hg19UCSC Ensembl
Innerchr8:98119745..98120099hg19UCSC Ensembl
Outerchr8:98119577..98120269hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618131
Supporting Variants
SamplesNA19475
Known GenesCPQ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13266940
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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