A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3442350



Internal ID14942617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32002489..32003587hg38UCSC Ensembl
Innerchr5:32002587..32003489hg38UCSC Ensembl
Outerchr5:32001489..32004587hg38UCSC Ensembl
chr5:32002595..32003693hg19UCSC Ensembl
Innerchr5:32002693..32003595hg19UCSC Ensembl
Outerchr5:32001595..32004693hg19UCSC Ensembl
chr5:32038352..32039450hg18UCSC Ensembl
Innerchr5:32039352..32038450hg18UCSC Ensembl
Outerchr5:32037352..32040450hg18UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8694745
SamplesNA19238
Known GenesPDZD2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3442350
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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