A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697369



Internal ID15028495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:68220616..68226214hg38UCSC Ensembl
Innerchr9:68221616..68225214hg38UCSC Ensembl
Outerchr9:68220553..68227214hg38UCSC Ensembl
chr9:70835532..70841130hg19UCSC Ensembl
Innerchr9:70836532..70840130hg19UCSC Ensembl
Outerchr9:70835469..70842130hg19UCSC Ensembl
chr9:70025352..70030950hg18UCSC Ensembl
Innerchr9:70026352..70029950hg18UCSC Ensembl
Outerchr9:70024352..70031950hg18UCSC Ensembl
Cytoband9q13
Allele length
AssemblyAllele length
hg385599
hg195599
hg185599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366092
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697369
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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