A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12617304



Internal ID723413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160930789..160971432hg38UCSC Ensembl
chr6:161351821..161392464hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3840644
hg1940644
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611454
Supporting Variants
SamplesHG00339
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12617304
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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