A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12498603



Internal ID3427717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106112862..106194004hg38UCSC Ensembl
chr6:106560737..106641879hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3881143
hg1981143
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610268
Supporting Variants
SamplesHG03063
Known GenesATG5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12498603
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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