A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307086



Internal ID14807348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170994904..170994905hg38UCSC Ensembl
Innerchr1:170994882..170994927hg38UCSC Ensembl
Outerchr1:170994881..170994928hg38UCSC Ensembl
chr1:170964045..170964046hg19UCSC Ensembl
Innerchr1:170964023..170964068hg19UCSC Ensembl
Outerchr1:170964022..170964069hg19UCSC Ensembl
chr1:169230669..169230670hg18UCSC Ensembl
Innerchr1:169230692..169230647hg18UCSC Ensembl
Outerchr1:169230646..169230693hg18UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7768027, essv7766016, essv7765712, essv7766340, essv7767772
SamplesNA11918, NA12815, NA12873, NA12891, NA12878
Known GenesMROH9
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307086
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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