A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7734392



Internal ID13403826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:8559530..8560036hg38UCSC Ensembl
Outerchr3:8559330..8560236hg38UCSC Ensembl
Innerchr3:8601216..8601722hg19UCSC Ensembl
Outerchr3:8601016..8601922hg19UCSC Ensembl
Innerchr3:8576216..8576722hg18UCSC Ensembl
Outerchr3:8576016..8576922hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38907
hg19907
hg18907
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302941
Supporting Variants
SamplesNA12155
Known GenesLMCD1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7734392
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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