A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3322003



Internal ID15168977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40065514..40065544hg38UCSC Ensembl
Innerchr5:40065528..40065528hg38UCSC Ensembl
Outerchr5:40065498..40065560hg38UCSC Ensembl
chr5:40065616..40065646hg19UCSC Ensembl
Innerchr5:40065630..40065630hg19UCSC Ensembl
Outerchr5:40065600..40065662hg19UCSC Ensembl
chr5:40101373..40101403hg18UCSC Ensembl
Innerchr5:40101387..40101387hg18UCSC Ensembl
Outerchr5:40101357..40101419hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38141
hg19141
hg18141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8924218, essv8924217, essv8924221, essv8924219, essv8924220
SamplesNA18526, NA18964, NA18570, NA18961, NA18562
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3322003
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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