A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623223



Internal ID6663391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50995215..50998263hg38UCSC Ensembl
chr10:52754975..52758023hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg383049
hg193049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129e214
Supporting Variantsessv13803480, essv13803481
SamplesHG02462, HG03565
Known GenesPRKG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623223
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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