A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307600



Internal ID15154548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:35986025..35986026hg38UCSC Ensembl
Innerchr11:35986007..35986044hg38UCSC Ensembl
Outerchr11:35986006..35986045hg38UCSC Ensembl
chr11:36007575..36007576hg19UCSC Ensembl
Innerchr11:36007557..36007594hg19UCSC Ensembl
Outerchr11:36007556..36007595hg19UCSC Ensembl
chr11:35964151..35964152hg18UCSC Ensembl
Innerchr11:35964170..35964133hg18UCSC Ensembl
Outerchr11:35964132..35964171hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7831807, essv7817375, essv7829672, essv7791697, essv7784205, essv7825100, essv7823063, essv7792945
SamplesNA18489, NA19138, NA18853, NA18523, NA19108, NA19147, NA19143, NA18505
Known GenesLDLRAD3
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307600
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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