A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8678955



Internal ID15107452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149919138..149919157hg38UCSC Ensembl
Innerchr5:149919134..149919161hg38UCSC Ensembl
Outerchr5:149919115..149919180hg38UCSC Ensembl
chr5:149298701..149298720hg19UCSC Ensembl
Innerchr5:149298697..149298724hg19UCSC Ensembl
Outerchr5:149298678..149298743hg19UCSC Ensembl
chr5:149278894..149278913hg18UCSC Ensembl
Innerchr5:149278917..149278890hg18UCSC Ensembl
Outerchr5:149278871..149278936hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3370145
Supporting Variants
SamplesNA19240
Known GenesPDE6A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8678955
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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