A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644240



Internal ID7030996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35661806..35669249hg38UCSC Ensembl
chr19:36152708..36160151hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg387444
hg197444
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv659e214
Supporting Variantsessv16046267, essv16046266, essv16046265
SamplesNA12155, HG01852, NA20522
Known GenesUPK1A, UPK1A-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644240
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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