A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3344325



Internal ID14844592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:79637545..79637568hg38UCSC Ensembl
Innerchr12:79637556..79637557hg38UCSC Ensembl
Outerchr12:79637533..79637580hg38UCSC Ensembl
chr12:80031325..80031348hg19UCSC Ensembl
Innerchr12:80031336..80031337hg19UCSC Ensembl
Outerchr12:80031313..80031360hg19UCSC Ensembl
chr12:78555456..78555479hg18UCSC Ensembl
Innerchr12:78555468..78555467hg18UCSC Ensembl
Outerchr12:78555444..78555491hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38193
hg19193
hg18193
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8958445, essv8958443, essv8958444, essv8958446
SamplesNA18861, NA18516, NA18499, NA18519
Known GenesPAWR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3344325
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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