A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694743



Internal ID14700471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32001389..32003487hg38UCSC Ensembl
Innerchr5:32002389..32002487hg38UCSC Ensembl
Outerchr5:32000389..32004487hg38UCSC Ensembl
chr5:32001495..32003593hg19UCSC Ensembl
Innerchr5:32002495..32002593hg19UCSC Ensembl
Outerchr5:32000495..32004593hg19UCSC Ensembl
chr5:32037252..32039350hg18UCSC Ensembl
Innerchr5:32038252..32038350hg18UCSC Ensembl
Outerchr5:32036252..32040350hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450012
Supporting Variants
SamplesNA19239
Known GenesPDZD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694743
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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