A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302557



Internal ID15149504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121464623..121465492hg38UCSC Ensembl
Innerchr9:121464723..121465392hg38UCSC Ensembl
Outerchr9:121464523..121465592hg38UCSC Ensembl
chr9:124226901..124227770hg19UCSC Ensembl
Innerchr9:124227001..124227670hg19UCSC Ensembl
Outerchr9:124226801..124227870hg19UCSC Ensembl
chr9:123266722..123267591hg18UCSC Ensembl
Innerchr9:123266822..123267491hg18UCSC Ensembl
Outerchr9:123266622..123267691hg18UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38870
hg19870
hg18870
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4522e59
Supporting Variantsessv7731446, essv7731151
SamplesNA12891, NA12878
Known GenesGGTA1P
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302557
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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