A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8697423



Internal ID14715578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:90840749..90842647hg38UCSC Ensembl
Innerchr9:90841647..90841749hg38UCSC Ensembl
Outerchr9:90839749..90843647hg38UCSC Ensembl
chr9:93603031..93604929hg19UCSC Ensembl
Innerchr9:93603929..93604031hg19UCSC Ensembl
Outerchr9:93602031..93605929hg19UCSC Ensembl
chr9:92642852..92644750hg18UCSC Ensembl
Innerchr9:92643852..92643750hg18UCSC Ensembl
Outerchr9:92641852..92645750hg18UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3392644
Supporting Variants
SamplesNA19239
Known GenesSYK
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8697423
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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