A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1208111



Internal ID12024548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:85663349..85663349hg38UCSC Ensembl
chr4:86584502..86584502hg19UCSC Ensembl
chr4:86803526..86803526hg18UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3862966
SamplesHuRef
Known GenesARHGAP24
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1208111
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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