A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13213177



Internal ID5785754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:63923367..63935483hg38UCSC Ensembl
chr8:64835924..64848040hg19UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg3812117
hg1912117
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617437
Supporting Variants
SamplesNA19149
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13213177
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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