A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574258



Internal ID6698954
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001921
Supporting Variants
SamplesHuRef
Known GenesPRKG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574258
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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