A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3566059



Internal ID6690755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:52188199..52188266hg38UCSC Ensembl
chr10:53947959..53948026hg19UCSC Ensembl
chr10:53617965..53618032hg18UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009864
Supporting Variants
SamplesHuRef
Known GenesPRKG1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3566059
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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