A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3431397



Internal ID15278353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72647789..72647834hg38UCSC Ensembl
Innerchr9:72647802..72647821hg38UCSC Ensembl
Outerchr9:72647757..72647866hg38UCSC Ensembl
chr9:75262705..75262750hg19UCSC Ensembl
Innerchr9:75262718..75262737hg19UCSC Ensembl
Outerchr9:75262673..75262782hg19UCSC Ensembl
chr9:74452525..74452570hg18UCSC Ensembl
Innerchr9:74452557..74452538hg18UCSC Ensembl
Outerchr9:74452493..74452602hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381259
hg191259
hg181259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8944886, essv8944887
SamplesNA18960, NA07000
Known GenesTMC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3431397
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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