A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660828



Internal ID9580247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:51939774..51947180hg38UCSC Ensembl
Outerchr10:51939737..51947230hg38UCSC Ensembl
Innerchr10:53699534..53706940hg19UCSC Ensembl
Outerchr10:53699497..53706990hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg387494
hg197494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6426483, essv5839971
SamplesNA18523, NA19908
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660828
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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