A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12412673



Internal ID5909867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:71158983..71165898hg38UCSC Ensembl
chr6:71868686..71875601hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386916
hg196916
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609458
Supporting Variants
SamplesNA19323
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12412673
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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