A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13567286



Internal ID3569102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:93892607..94147285hg38UCSC Ensembl
Innerchr9:93892757..94147135hg38UCSC Ensembl
Outerchr9:93892457..94147435hg38UCSC Ensembl
chr9:96654889..96909567hg19UCSC Ensembl
Innerchr9:96655039..96909417hg19UCSC Ensembl
Outerchr9:96654739..96909717hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38254679
hg19254679
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621110
Supporting Variants
SamplesHG01602
Known GenesBARX1, PTPDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13567286
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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