A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8968232



Internal ID14215093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:51698784..51698829hg38UCSC Ensembl
Innerchr15:51698798..51698815hg38UCSC Ensembl
Outerchr15:51698770..51698843hg38UCSC Ensembl
chr15:51990981..51991026hg19UCSC Ensembl
Innerchr15:51990995..51991012hg19UCSC Ensembl
Outerchr15:51990967..51991040hg19UCSC Ensembl
chr15:49778273..49778318hg18UCSC Ensembl
Innerchr15:49778287..49778304hg18UCSC Ensembl
Outerchr15:49778259..49778332hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38247
hg19247
hg18247
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3401160
Supporting Variants
SamplesNA18577
Known GenesSCG3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8968232
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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