A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12446945



Internal ID5509238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:78668673..78723167hg38UCSC Ensembl
chr6:79378390..79432884hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3854495
hg1954495
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609672
Supporting Variants
SamplesNA18988
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12446945
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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