A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12453921



Internal ID5597327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82810467..82865064hg38UCSC Ensembl
chr6:83520186..83574783hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3854598
hg1954598
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609767
Supporting Variants
SamplesNA19031
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12453921
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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