A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621722



Internal ID7008589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124378965..124497390hg38UCSC Ensembl
Innerchr9:124379115..124497240hg38UCSC Ensembl
Outerchr9:124378815..124497540hg38UCSC Ensembl
chr9:127141244..127259669hg19UCSC Ensembl
Innerchr9:127141394..127259519hg19UCSC Ensembl
Outerchr9:127141094..127259819hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38118426
hg19118426
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13618678, essv13618679
SamplesHG01602, NA19676
Known GenesNR5A1, PSMB7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621722
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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