A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1202818



Internal ID12019255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124296115..124296115hg38UCSC Ensembl
chr12:124780661..124780661hg19UCSC Ensembl
chr12:123346614..123346614hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4111616
SamplesHuRef
Known GenesFAM101A, ZNF664-FAM101A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1202818
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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