A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302978



Internal ID15149926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:58484223..58485492hg38UCSC Ensembl
Innerchr15:58484323..58485392hg38UCSC Ensembl
Outerchr15:58484123..58485592hg38UCSC Ensembl
chr15:58776422..58777691hg19UCSC Ensembl
Innerchr15:58776522..58777591hg19UCSC Ensembl
Outerchr15:58776322..58777791hg19UCSC Ensembl
chr15:56563714..56564983hg18UCSC Ensembl
Innerchr15:56563814..56564883hg18UCSC Ensembl
Outerchr15:56563614..56565083hg18UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381270
hg191270
hg181270
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7739113, essv7738158, essv7735619, essv7738383, essv7735254, essv7734213, essv7733782, essv7737814, essv7731801, essv7735129, essv7738274, essv7738670, essv7733154, essv7732353, essv7732450, essv7737296, essv7733378, essv7734593, essv7732986, essv7738601, essv7734384, essv7734125
SamplesNA12414, NA18507, NA18571, NA12287, NA12044, NA18520, NA18973, NA18907, NA18573, NA12249, NA18532, NA19099, NA19257, NA18555, NA18593, NA18945, NA18576, NA12043, NA18608, NA12716, NA18511, NA12154
Known GenesLIPC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302978
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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