A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303299



Internal ID14803561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13190783..13190784hg38UCSC Ensembl
Innerchr6:13190761..13190806hg38UCSC Ensembl
Outerchr6:13190760..13190807hg38UCSC Ensembl
chr6:13191015..13191016hg19UCSC Ensembl
Innerchr6:13190993..13191038hg19UCSC Ensembl
Outerchr6:13190992..13191039hg19UCSC Ensembl
chr6:13298994..13298995hg18UCSC Ensembl
Innerchr6:13299017..13298972hg18UCSC Ensembl
Outerchr6:13298971..13299018hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg386032
hg196032
hg186032
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7769842, essv7768117, essv7768900, essv7766704, essv7764472, essv7767131, essv7766405, essv7766033, essv7769801
SamplesNA12287, NA11840, NA12873, NA12814, NA11894, NA07346, NA12892, NA12891, NA12878
Known GenesPHACTR1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303299
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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