A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407454



Internal ID14907730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12939747..12939747hg38UCSC Ensembl
Innerchr6:12939746..12939748hg38UCSC Ensembl
Outerchr6:12939697..12939797hg38UCSC Ensembl
chr6:12939979..12939979hg19UCSC Ensembl
Innerchr6:12939978..12939980hg19UCSC Ensembl
Outerchr6:12939929..12940029hg19UCSC Ensembl
chr6:13047965..13047965hg18UCSC Ensembl
Innerchr6:13047966..13047964hg18UCSC Ensembl
Outerchr6:13047915..13048015hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701478
SamplesNA12878
Known GenesPHACTR1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407454
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer