A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9609413



Internal ID13259277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45767980..45767999hg38UCSC Ensembl
Innerchr3:45767976..45768003hg38UCSC Ensembl
Outerchr3:45767957..45768022hg38UCSC Ensembl
chr3:45809472..45809491hg19UCSC Ensembl
Innerchr3:45809468..45809495hg19UCSC Ensembl
Outerchr3:45809449..45809514hg19UCSC Ensembl
chr3:45784476..45784495hg18UCSC Ensembl
Innerchr3:45784499..45784472hg18UCSC Ensembl
Outerchr3:45784453..45784518hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3365430
Supporting Variants
SamplesNA12815
Known GenesSLC6A20
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9609413
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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