A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688735



Internal ID15013933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69249005..69249303hg38UCSC Ensembl
Innerchr12:69249004..69249304hg38UCSC Ensembl
Outerchr12:69248005..69250303hg38UCSC Ensembl
chr12:69642785..69643083hg19UCSC Ensembl
Innerchr12:69642784..69643084hg19UCSC Ensembl
Outerchr12:69641785..69644083hg19UCSC Ensembl
chr12:67929052..67929350hg18UCSC Ensembl
Innerchr12:67929351..67929051hg18UCSC Ensembl
Outerchr12:67928052..67930350hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38299
hg19299
hg18299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3394226
Supporting Variants
SamplesNA19238
Known GenesCPSF6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688735
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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