A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8694557



Internal ID15045505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11239940..11241338hg38UCSC Ensembl
Innerchr5:11240338..11240940hg38UCSC Ensembl
Outerchr5:11238940..11242338hg38UCSC Ensembl
chr5:11240052..11241450hg19UCSC Ensembl
Innerchr5:11240450..11241052hg19UCSC Ensembl
Outerchr5:11239052..11242450hg19UCSC Ensembl
chr5:11293052..11294450hg18UCSC Ensembl
Innerchr5:11294052..11293450hg18UCSC Ensembl
Outerchr5:11292052..11295450hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3385685
Supporting Variants
SamplesNA19239
Known GenesCTNND2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8694557
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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