A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329148



Internal ID15176135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134743685..134745283hg38UCSC Ensembl
Innerchr9:134744283..134744685hg38UCSC Ensembl
Outerchr9:134742685..134746283hg38UCSC Ensembl
chr9:137635531..137637129hg19UCSC Ensembl
Innerchr9:137636129..137636531hg19UCSC Ensembl
Outerchr9:137634531..137638129hg19UCSC Ensembl
chr9:136775352..136776950hg18UCSC Ensembl
Innerchr9:136776352..136775950hg18UCSC Ensembl
Outerchr9:136774352..136777950hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696557
SamplesNA19240
Known GenesCOL5A1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329148
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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