A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387621



Internal ID15234590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:18861547..18861567hg38UCSC Ensembl
Innerchr4:18861546..18861565hg38UCSC Ensembl
Outerchr4:18861529..18861585hg38UCSC Ensembl
chr4:18863170..18863190hg19UCSC Ensembl
Innerchr4:18863169..18863188hg19UCSC Ensembl
Outerchr4:18863152..18863208hg19UCSC Ensembl
chr4:18472268..18472288hg18UCSC Ensembl
Innerchr4:18472286..18472267hg18UCSC Ensembl
Outerchr4:18472250..18472306hg18UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38218
hg19218
hg18218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8917603, essv8917601, essv8917599, essv8917606, essv8917600, essv8917604, essv8917598, essv8917605
SamplesNA18592, NA18545, NA18959, NA18558, NA18638, NA18605, NA18593, NA18552
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387621
Frequency
Sample Size185
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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