A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677435



Internal ID13655795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72647774..72647800hg38UCSC Ensembl
Innerchr9:72647786..72647786hg38UCSC Ensembl
Outerchr9:72647760..72647814hg38UCSC Ensembl
chr9:75262690..75262716hg19UCSC Ensembl
Innerchr9:75262702..75262702hg19UCSC Ensembl
Outerchr9:75262676..75262730hg19UCSC Ensembl
chr9:74452510..74452536hg18UCSC Ensembl
Innerchr9:74452522..74452522hg18UCSC Ensembl
Outerchr9:74452496..74452550hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg381248
hg191248
hg181248
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3402158
Supporting Variants
SamplesNA12878
Known GenesTMC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677435
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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