A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809586



Internal ID13654013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72647792..72648014hg38UCSC Ensembl
Innerchr9:72647791..72648015hg38UCSC Ensembl
Outerchr9:72647682..72648134hg38UCSC Ensembl
chr9:75262708..75262930hg19UCSC Ensembl
Innerchr9:75262707..75262931hg19UCSC Ensembl
Outerchr9:75262598..75263050hg19UCSC Ensembl
chr9:74452528..74452750hg18UCSC Ensembl
Innerchr9:74452751..74452527hg18UCSC Ensembl
Outerchr9:74452418..74452870hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38223
hg19223
hg18223
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324047
Supporting Variants
SamplesNA12878
Known GenesTMC1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809586
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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