A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302531



Internal ID15149478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173735916..173736008hg38UCSC Ensembl
Innerchr5:173735962..173735962hg38UCSC Ensembl
Outerchr5:173735816..173736108hg38UCSC Ensembl
chr5:173162919..173163011hg19UCSC Ensembl
Innerchr5:173162965..173162965hg19UCSC Ensembl
Outerchr5:173162819..173163111hg19UCSC Ensembl
chr5:173095525..173095617hg18UCSC Ensembl
Innerchr5:173095571..173095571hg18UCSC Ensembl
Outerchr5:173095425..173095717hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731427, essv7731139, essv7731038
SamplesNA12891, NA12878, NA12892
Known GenesLOC101928136
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302531
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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