A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1531131



Internal ID12694252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50615427..50615427hg38UCSC Ensembl
chr3:50652858..50652858hg19UCSC Ensembl
chr3:50627862..50627862hg18UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg3888
hg1988
hg1888
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3837720
SamplesHuRef
Known GenesMAPKAPK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1531131
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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