A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8809564



Internal ID13653707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134714446..134714877hg38UCSC Ensembl
Innerchr9:134714445..134714878hg38UCSC Ensembl
Outerchr9:134714336..134714997hg38UCSC Ensembl
chr9:137606292..137606723hg19UCSC Ensembl
Innerchr9:137606291..137606724hg19UCSC Ensembl
Outerchr9:137606182..137606843hg19UCSC Ensembl
chr9:136746113..136746544hg18UCSC Ensembl
Innerchr9:136746545..136746112hg18UCSC Ensembl
Outerchr9:136746003..136746664hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38432
hg19432
hg18432
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417267
Supporting Variants
SamplesNA12878
Known GenesCOL5A1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8809564
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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