A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8958443



Internal ID13516246
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 StatusS
Merged Variantsesv3344325
Supporting Variants
SamplesNA18516
Known GenesPAWR
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8958443
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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