A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13633415



Internal ID660155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132408568..132411747hg38UCSC Ensembl
Innerchr9:132408590..132411725hg38UCSC Ensembl
Outerchr9:132408546..132411769hg38UCSC Ensembl
chr9:135283955..135287134hg19UCSC Ensembl
Innerchr9:135283977..135287112hg19UCSC Ensembl
Outerchr9:135283933..135287156hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg383180
hg193180
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621913
Supporting Variants
SamplesHG00306
Known GenesC9orf171
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13633415
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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