A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390043



Internal ID15237010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117126064..117129262hg38UCSC Ensembl
Innerchr12:117127064..117128262hg38UCSC Ensembl
Outerchr12:117125064..117130262hg38UCSC Ensembl
chr12:117563869..117567067hg19UCSC Ensembl
Innerchr12:117564869..117566067hg19UCSC Ensembl
Outerchr12:117562869..117568067hg19UCSC Ensembl
chr12:116048252..116051450hg18UCSC Ensembl
Innerchr12:116049252..116050450hg18UCSC Ensembl
Outerchr12:116047252..116052450hg18UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg383199
hg193199
hg183199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv920e59
Supporting Variantsessv8688560
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390043
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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