A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306095



Internal ID15153043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99819700..99819701hg38UCSC Ensembl
Innerchr4:99819670..99819731hg38UCSC Ensembl
Outerchr4:99819669..99819732hg38UCSC Ensembl
chr4:100740857..100740858hg19UCSC Ensembl
Innerchr4:100740827..100740888hg19UCSC Ensembl
Outerchr4:100740826..100740889hg19UCSC Ensembl
chr4:100959880..100959881hg18UCSC Ensembl
Innerchr4:100959911..100959850hg18UCSC Ensembl
Outerchr4:100959849..100959912hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7753032, essv7762827, essv7745200, essv7750995, essv7752221, essv7748360, essv7740819, essv7753894, essv7760618, essv7756520, essv7760447, essv7750750, essv7743402, essv7751951
SamplesNA11995, NA12004, NA18959, NA12750, NA18944, NA07347, NA18638, NA11831, NA10847, NA12716, NA12763, NA06986, NA12006, NA07000
Known GenesDAPP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306095
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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