A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12499589



Internal ID1668680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:108344085..108357026hg38UCSC Ensembl
chr6:108665289..108678230hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3812942
hg1912942
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610317
Supporting Variants
SamplesHG01530
Known GenesLACE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12499589
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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