A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13131096



Internal ID5652645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19767849..19813426hg38UCSC Ensembl
chr8:19625360..19670937hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3845578
hg1945578
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616551
Supporting Variants
SamplesNA19067
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13131096
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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