A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3446514



Internal ID15293464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129339352..129341050hg38UCSC Ensembl
Innerchr9:129340050..129340352hg38UCSC Ensembl
Outerchr9:129338352..129342050hg38UCSC Ensembl
chr9:132101631..132103329hg19UCSC Ensembl
Innerchr9:132102329..132102631hg19UCSC Ensembl
Outerchr9:132100631..132104329hg19UCSC Ensembl
chr9:131141452..131143150hg18UCSC Ensembl
Innerchr9:131142452..131142150hg18UCSC Ensembl
Outerchr9:131140452..131144150hg18UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4528e59
Supporting Variantsessv8696526
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3446514
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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