A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12457612



Internal ID792215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:88444758..88454296hg38UCSC Ensembl
chr6:89154477..89164015hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg389539
hg199539
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609884
Supporting Variants
SamplesHG00375
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12457612
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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