A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606892



Internal ID6993827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137058747..137106976hg38UCSC Ensembl
chr5:136394436..136442665hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3848230
hg1948230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12069325
SamplesHG04063
Known GenesSPOCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606892
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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