A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13612801



Internal ID711549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:118658585..118661353hg38UCSC Ensembl
Innerchr9:118658586..118661353hg38UCSC Ensembl
Outerchr9:118658585..118661354hg38UCSC Ensembl
chr9:121420863..121423631hg19UCSC Ensembl
Innerchr9:121420864..121423631hg19UCSC Ensembl
Outerchr9:121420863..121423632hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg382769
hg192769
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621623
Supporting Variants
SamplesHG00334
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13612801
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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