A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7754368



Internal ID13390034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16470216..16470217hg38UCSC Ensembl
Innerchr5:16470185..16470248hg38UCSC Ensembl
Outerchr5:16470184..16470249hg38UCSC Ensembl
chr5:16470325..16470326hg19UCSC Ensembl
Innerchr5:16470294..16470357hg19UCSC Ensembl
Outerchr5:16470293..16470358hg19UCSC Ensembl
chr5:16523325..16523326hg18UCSC Ensembl
Innerchr5:16523357..16523294hg18UCSC Ensembl
Outerchr5:16523293..16523358hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306356
Supporting Variants
SamplesNA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7754368
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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