A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412202



Internal ID15259161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:78682690..78682826hg38UCSC Ensembl
Innerchr9:78682689..78682827hg38UCSC Ensembl
Outerchr9:78682580..78682946hg38UCSC Ensembl
chr9:81297606..81297742hg19UCSC Ensembl
Innerchr9:81297605..81297743hg19UCSC Ensembl
Outerchr9:81297496..81297862hg19UCSC Ensembl
chr9:80487426..80487562hg18UCSC Ensembl
Innerchr9:80487563..80487425hg18UCSC Ensembl
Outerchr9:80487316..80487682hg18UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg38137
hg19137
hg18137
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8809588
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412202
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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