A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1427548



Internal ID12243984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86021323..86021323hg38UCSC Ensembl
chr4:86942476..86942476hg19UCSC Ensembl
chr4:87161500..87161500hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg38160
hg19160
hg18160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3714876
SamplesHuRef
Known GenesMAPK10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1427548
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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