A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357138



Internal ID15204118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:653289..655287hg38UCSC Ensembl
Innerchr7:654287..654289hg38UCSC Ensembl
Outerchr7:652289..656287hg38UCSC Ensembl
chr7:692926..694924hg19UCSC Ensembl
Innerchr7:693924..693926hg19UCSC Ensembl
Outerchr7:691926..695924hg19UCSC Ensembl
chr7:659452..661450hg18UCSC Ensembl
Innerchr7:660452..660450hg18UCSC Ensembl
Outerchr7:658452..662450hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381999
hg191999
hg181999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3731e59
Supporting Variantsessv8696015
SamplesNA19239
Known GenesPRKAR1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3357138
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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