A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8969245



Internal ID14431192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:82882872..82882883hg38UCSC Ensembl
Innerchr15:82882862..82882883hg38UCSC Ensembl
chr15:83551624..83557685hg19UCSC Ensembl
Innerchr15:83551614..83557692hg19UCSC Ensembl
Outerchr15:83551603..83557703hg19UCSC Ensembl
chr15:81348678..81348689hg18UCSC Ensembl
Innerchr15:81348696..81348668hg18UCSC Ensembl
Outerchr15:81348657..81348707hg18UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg386048
hg196048
hg186048
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401795
Supporting Variants
SamplesNA18912
Known GenesHOMER2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8969245
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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