A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302888



Internal ID14803150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68676237..68721189hg38UCSC Ensembl
Innerchr9:68676337..68721089hg38UCSC Ensembl
Outerchr9:68676137..68721289hg38UCSC Ensembl
chr9:71291153..71336105hg19UCSC Ensembl
Innerchr9:71291253..71336005hg19UCSC Ensembl
Outerchr9:71291053..71336205hg19UCSC Ensembl
chr9:70480973..70525925hg18UCSC Ensembl
Innerchr9:70481073..70525825hg18UCSC Ensembl
Outerchr9:70480873..70526025hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg3844953
hg1944953
hg1844953
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731724
SamplesNA18943
Known GenesPIP5K1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302888
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer