A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3341775



Internal ID14842043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85549218..85549223hg38UCSC Ensembl
Innerchr4:85549209..85549230hg38UCSC Ensembl
Outerchr4:85549204..85549235hg38UCSC Ensembl
chr4:86470371..86470376hg19UCSC Ensembl
Innerchr4:86470362..86470383hg19UCSC Ensembl
Outerchr4:86470357..86470388hg19UCSC Ensembl
chr4:86689395..86689400hg18UCSC Ensembl
Innerchr4:86689407..86689386hg18UCSC Ensembl
Outerchr4:86689381..86689412hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675698, essv8675699, essv8675701, essv8675702, essv8675700
SamplesNA12891, NA19238, NA12878, NA12892, NA19240
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3341775
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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