A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13131074



Internal ID3132890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19192043..19245650hg38UCSC Ensembl
chr8:19049553..19103160hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3853608
hg1953608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616540
Supporting Variants
SamplesNA19214
Known GenesLOC100128993
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13131074
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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