A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12612058



Internal ID2613874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:160167929..160379860hg38UCSC Ensembl
chr6:160588961..160800892hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38211932
hg19211932
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611428
Supporting Variants
SamplesNA18953
Known GenesSLC22A2, SLC22A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12612058
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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