A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12553302



Internal ID4189421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131906740..131913917hg38UCSC Ensembl
chr6:132227880..132235057hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg387178
hg197178
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610825
Supporting Variants
SamplesHG03780
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12553302
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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