A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675082



Internal ID9941187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40779164..40786695hg38UCSC Ensembl
Outerchr5:40779127..40786745hg38UCSC Ensembl
Innerchr5:40779266..40786797hg19UCSC Ensembl
Outerchr5:40779229..40786847hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg387619
hg197619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5663415, essv5732719
SamplesHG00353, HG00339
Known GenesPRKAA1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675082
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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