A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8944886



Internal ID14630555
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 StatusS
Merged Variantsesv3431397
Supporting Variants
SamplesNA18960
Known GenesTMC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8944886
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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