A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13380774



Internal ID1192140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:3988841..3996868hg38UCSC Ensembl
Innerchr9:3988841..3996868hg38UCSC Ensembl
Outerchr9:3988750..3996943hg38UCSC Ensembl
chr9:3988841..3996868hg19UCSC Ensembl
Innerchr9:3988841..3996868hg19UCSC Ensembl
Outerchr9:3988750..3996943hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg388028
hg198028
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619324
Supporting Variants
SamplesHG01066
Known GenesGLIS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13380774
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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