A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305119



Internal ID15152067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:97362681..97362682hg38UCSC Ensembl
Innerchr9:97362625..97362738hg38UCSC Ensembl
Outerchr9:97362624..97362739hg38UCSC Ensembl
chr9:100124963..100124964hg19UCSC Ensembl
Innerchr9:100124907..100125020hg19UCSC Ensembl
Outerchr9:100124906..100125021hg19UCSC Ensembl
chr9:99164784..99164785hg18UCSC Ensembl
Innerchr9:99164841..99164728hg18UCSC Ensembl
Outerchr9:99164727..99164842hg18UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744136, essv7750439, essv7756293
SamplesNA18870, NA18510, NA19257
Known GenesCCDC180, LOC100499484-C9ORF174
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305119
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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