A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8677335



Internal ID15057242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:14877444..14877454hg38UCSC Ensembl
Innerchr9:14877440..14877456hg38UCSC Ensembl
Outerchr9:14877430..14877468hg38UCSC Ensembl
chr9:14877442..14877452hg19UCSC Ensembl
Innerchr9:14877438..14877454hg19UCSC Ensembl
Outerchr9:14877428..14877466hg19UCSC Ensembl
chr9:14867442..14867452hg18UCSC Ensembl
Innerchr9:14867454..14867438hg18UCSC Ensembl
Outerchr9:14867428..14867466hg18UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388852
Supporting Variants
SamplesNA19239
Known GenesFREM1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8677335
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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