A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3330726



Internal ID14831003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:44720110..44720129hg38UCSC Ensembl
Innerchr18:44720106..44720133hg38UCSC Ensembl
Outerchr18:44720087..44720152hg38UCSC Ensembl
chr18:42300075..42300094hg19UCSC Ensembl
Innerchr18:42300071..42300098hg19UCSC Ensembl
Outerchr18:42300052..42300117hg19UCSC Ensembl
chr18:40554073..40554092hg18UCSC Ensembl
Innerchr18:40554096..40554069hg18UCSC Ensembl
Outerchr18:40554050..40554115hg18UCSC Ensembl
Cytoband18q12.3
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 Variantsessv8678271
SamplesNA12878
Known GenesSETBP1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3330726
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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