A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394762



Internal ID14895040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13190789..13190808hg38UCSC Ensembl
Innerchr6:13190785..13190812hg38UCSC Ensembl
Outerchr6:13190766..13190831hg38UCSC Ensembl
chr6:13191021..13191040hg19UCSC Ensembl
Innerchr6:13191017..13191044hg19UCSC Ensembl
Outerchr6:13190998..13191063hg19UCSC Ensembl
chr6:13299000..13299019hg18UCSC Ensembl
Innerchr6:13299023..13298996hg18UCSC Ensembl
Outerchr6:13298977..13299042hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9625925, essv9625958, essv9625947, essv9625936, essv9625914
SamplesNA11840, NA12873, NA12814, NA11894, NA07346
Known GenesPHACTR1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394762
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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