A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5813253



Internal ID8790656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:47191258..47195442hg38UCSC Ensembl
Outerchr15:47191101..47195595hg38UCSC Ensembl
Innerchr15:47483455..47487639hg19UCSC Ensembl
Outerchr15:47483298..47487792hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg384495
hg194495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670559
Supporting Variants
SamplesHG01440
Known GenesSEMA6D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5813253
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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