A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407308



Internal ID15254270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28285654..28285673hg38UCSC Ensembl
Innerchr12:28285650..28285677hg38UCSC Ensembl
Outerchr12:28285631..28285696hg38UCSC Ensembl
chr12:28438587..28438606hg19UCSC Ensembl
Innerchr12:28438583..28438610hg19UCSC Ensembl
Outerchr12:28438564..28438629hg19UCSC Ensembl
chr12:28329854..28329873hg18UCSC Ensembl
Innerchr12:28329877..28329850hg18UCSC Ensembl
Outerchr12:28329831..28329896hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9656380, essv9656369
SamplesNA12814, NA12874
Known GenesCCDC91
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407308
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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