A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7838156



Internal ID13620296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72647784..72647785hg38UCSC Ensembl
Innerchr9:72647749..72647820hg38UCSC Ensembl
Outerchr9:72647748..72647821hg38UCSC Ensembl
chr9:75262700..75262701hg19UCSC Ensembl
Innerchr9:75262665..75262736hg19UCSC Ensembl
Outerchr9:75262664..75262737hg19UCSC Ensembl
chr9:74452520..74452521hg18UCSC Ensembl
Innerchr9:74452556..74452485hg18UCSC Ensembl
Outerchr9:74452484..74452557hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381251
hg191251
hg181251
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309405
Supporting Variants
SamplesNA12878
Known GenesTMC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7838156
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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