A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8696526



Internal ID15025876
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 StatusS
Merged Variantsesv3446514
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8696526
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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