A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3336312



Internal ID14836583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:30407457..30408055hg38UCSC Ensembl
Innerchr15:30407456..30408056hg38UCSC Ensembl
Outerchr15:30406457..30409055hg38UCSC Ensembl
chr15:30699660..30700258hg19UCSC Ensembl
Innerchr15:30699659..30700259hg19UCSC Ensembl
Outerchr15:30698660..30701258hg19UCSC Ensembl
chr15:28486952..28487550hg18UCSC Ensembl
Innerchr15:28487551..28486951hg18UCSC Ensembl
Outerchr15:28485952..28488550hg18UCSC Ensembl
Cytoband15q13.2
Allele length
AssemblyAllele length
hg38599
hg19599
hg18599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689761
SamplesNA19239
Known GenesLOC101059918
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3336312
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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