A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12553376



Internal ID1591214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132076159..132117832hg38UCSC Ensembl
chr6:132397299..132438972hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3841674
hg1941674
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610830
Supporting Variants
SamplesHG01479
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12553376
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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