A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001921



Internal ID6714055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52067910..52068227hg38UCSC Ensembl
chr10:53827670..53827987hg19UCSC Ensembl
chr10:53497676..53497993hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38318
hg19318
hg18318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3574258
SamplesHuRef
Known GenesPRKG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001921
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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