A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688727



Internal ID14737884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:511425..513223hg38UCSC Ensembl
Innerchr12:512223..512425hg38UCSC Ensembl
Outerchr12:510425..514223hg38UCSC Ensembl
chr12:620591..622389hg19UCSC Ensembl
Innerchr12:621389..621591hg19UCSC Ensembl
Outerchr12:619591..623389hg19UCSC Ensembl
chr12:490852..492650hg18UCSC Ensembl
Innerchr12:491852..491650hg18UCSC Ensembl
Outerchr12:489852..493650hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3374033
Supporting Variants
SamplesNA19240
Known GenesB4GALNT3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688727
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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