A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7406340



Internal ID10337936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52068969..52069020hg38UCSC Ensembl
chr10:53828729..53828780hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3136773
Supporting Variants
SamplesHuRef
Known GenesPRKG1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7406340
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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