A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13204425



Internal ID3206241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56136073..56185853hg38UCSC Ensembl
chr8:57048632..57098412hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3849781
hg1949781
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617293
Supporting Variants
SamplesHG01048
Known GenesPLAG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13204425
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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