A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308226



Internal ID15155174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73564682..73564683hg38UCSC Ensembl
Innerchr4:73564638..73564727hg38UCSC Ensembl
Outerchr4:73564637..73564728hg38UCSC Ensembl
chr4:74430399..74430400hg19UCSC Ensembl
Innerchr4:74430355..74430444hg19UCSC Ensembl
Outerchr4:74430354..74430445hg19UCSC Ensembl
chr4:74649263..74649264hg18UCSC Ensembl
Innerchr4:74649308..74649219hg18UCSC Ensembl
Outerchr4:74649218..74649309hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836778, essv7838446
SamplesNA12891, NA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308226
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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