A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428589



Internal ID14928859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106728288..106728307hg38UCSC Ensembl
Innerchr12:106728284..106728311hg38UCSC Ensembl
Outerchr12:106728265..106728330hg38UCSC Ensembl
chr12:107122066..107122085hg19UCSC Ensembl
Innerchr12:107122062..107122089hg19UCSC Ensembl
Outerchr12:107122043..107122108hg19UCSC Ensembl
chr12:105646196..105646215hg18UCSC Ensembl
Innerchr12:105646219..105646192hg18UCSC Ensembl
Outerchr12:105646173..105646238hg18UCSC Ensembl
Cytoband12q23.3
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 Variantsessv9659602
SamplesNA12873
Known GenesLOC100287944, RFX4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428589
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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