A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12643441



Internal ID2645257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167290988..167309829hg38UCSC Ensembl
chr6:167704476..167723317hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3818842
hg1918842
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611658
Supporting Variants
SamplesHG03518
Known GenesUNC93A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12643441
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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