A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308549



Internal ID15155498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:36670765..36670766hg38UCSC Ensembl
Innerchr9:36670737..36670794hg38UCSC Ensembl
Outerchr9:36670736..36670795hg38UCSC Ensembl
chr9:36670762..36670763hg19UCSC Ensembl
Innerchr9:36670734..36670791hg19UCSC Ensembl
Outerchr9:36670733..36670792hg19UCSC Ensembl
chr9:36660762..36660763hg18UCSC Ensembl
Innerchr9:36660791..36660734hg18UCSC Ensembl
Outerchr9:36660733..36660792hg18UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg38205
hg19205
hg18205
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837334, essv7837024
SamplesNA19239, NA19240
Known GenesMELK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308549
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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