A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3357480



Internal ID14857742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99819697..99819716hg38UCSC Ensembl
Innerchr4:99819698..99819715hg38UCSC Ensembl
Outerchr4:99819679..99819734hg38UCSC Ensembl
chr4:100740854..100740873hg19UCSC Ensembl
Innerchr4:100740855..100740872hg19UCSC Ensembl
Outerchr4:100740836..100740891hg19UCSC Ensembl
chr4:100959877..100959896hg18UCSC Ensembl
Innerchr4:100959895..100959878hg18UCSC Ensembl
Outerchr4:100959859..100959914hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38226
hg19226
hg18226
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8919983, essv8919990, essv8919986, essv8919979, essv8919989, essv8919987, essv8919977, essv8919982, essv8919978, essv8919991, essv8919988, essv8919980, essv8919985, essv8919984
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)esv3357480
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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