A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3366297



Internal ID15213274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68220553..68226414hg38UCSC Ensembl
Innerchr9:68221516..68225414hg38UCSC Ensembl
Outerchr9:68220553..68227414hg38UCSC Ensembl
chr9:70835469..70841330hg19UCSC Ensembl
Innerchr9:70836432..70840330hg19UCSC Ensembl
Outerchr9:70835469..70842330hg19UCSC Ensembl
chr9:70025252..70031150hg18UCSC Ensembl
Innerchr9:70026252..70030150hg18UCSC Ensembl
Outerchr9:70024252..70032150hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg385862
hg195862
hg185899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4437e59
Supporting Variantsessv8697365
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3366297
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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