A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3327906



Internal ID15174891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:97362669..97362717hg38UCSC Ensembl
Innerchr9:97362680..97362704hg38UCSC Ensembl
Outerchr9:97362632..97362754hg38UCSC Ensembl
chr9:100124951..100124999hg19UCSC Ensembl
Innerchr9:100124962..100124986hg19UCSC Ensembl
Outerchr9:100124914..100125036hg19UCSC Ensembl
chr9:99164772..99164820hg18UCSC Ensembl
Innerchr9:99164807..99164783hg18UCSC Ensembl
Outerchr9:99164735..99164857hg18UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8945595, essv8945597, essv8945596
SamplesNA18870, NA18510, NA19257
Known GenesCCDC180, LOC100499484-C9ORF174
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3327906
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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