A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310391



Internal ID15157342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102916895..102916896hg38UCSC Ensembl
Innerchr12:102916867..102916924hg38UCSC Ensembl
Outerchr12:102916866..102916925hg38UCSC Ensembl
chr12:103310673..103310674hg19UCSC Ensembl
Innerchr12:103310645..103310702hg19UCSC Ensembl
Outerchr12:103310644..103310703hg19UCSC Ensembl
chr12:101834803..101834804hg18UCSC Ensembl
Innerchr12:101834832..101834775hg18UCSC Ensembl
Outerchr12:101834774..101834833hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838938, essv7837632
SamplesNA19238, NA19240
Known GenesPAH
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310391
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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