A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393330



Internal ID15240295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60399358..60399377hg38UCSC Ensembl
Innerchr5:60399354..60399381hg38UCSC Ensembl
Outerchr5:60399335..60399400hg38UCSC Ensembl
chr5:59695185..59695204hg19UCSC Ensembl
Innerchr5:59695181..59695208hg19UCSC Ensembl
Outerchr5:59695162..59695227hg19UCSC Ensembl
chr5:59730942..59730961hg18UCSC Ensembl
Innerchr5:59730965..59730938hg18UCSC Ensembl
Outerchr5:59730919..59730984hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8679018
SamplesNA12878
Known GenesPDE4D
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393330
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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