A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12367420



Internal ID2369236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57231347..57341646hg38UCSC Ensembl
chr6:57096145..57206444hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38110300
hg19110300
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609117
Supporting Variants
SamplesNA20813
Known GenesPRIM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12367420
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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