A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349241



Internal ID14849506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:99579268..99579287hg38UCSC Ensembl
Innerchr15:99579264..99579291hg38UCSC Ensembl
Outerchr15:99579245..99579310hg38UCSC Ensembl
chr15:100119473..100119492hg19UCSC Ensembl
Innerchr15:100119469..100119496hg19UCSC Ensembl
Outerchr15:100119450..100119515hg19UCSC Ensembl
chr15:97936996..97937015hg18UCSC Ensembl
Innerchr15:97937019..97936992hg18UCSC Ensembl
Outerchr15:97936973..97937038hg18UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9670458
SamplesNA11918
Known GenesMEF2A
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349241
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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