A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607106



Internal ID6647348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148224310..148363295hg38UCSC Ensembl
chr5:147603873..147742858hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38138986
hg19138986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12092659
SamplesHG02032
Known GenesLOC102546294, SPINK13, SPINK7, SPINK9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607106
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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