A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8689721



Internal ID15054750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:28233811..28235009hg38UCSC Ensembl
Innerchr15:28234009..28234811hg38UCSC Ensembl
Outerchr15:28232811..28236009hg38UCSC Ensembl
chr15:28478957..28480155hg19UCSC Ensembl
Innerchr15:28479155..28479957hg19UCSC Ensembl
Outerchr15:28477957..28481155hg19UCSC Ensembl
chr15:26152552..26153750hg18UCSC Ensembl
Innerchr15:26153552..26152750hg18UCSC Ensembl
Outerchr15:26151552..26154750hg18UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg381199
hg191199
hg181199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3342263
Supporting Variants
SamplesNA19239
Known GenesHERC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8689721
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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