A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1118928



Internal ID11935366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124439349..124439349hg38UCSC Ensembl
chr12:124923895..124923895hg19UCSC Ensembl
chr12:123489848..123489848hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3870
hg1970
hg1870
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4174765
SamplesHuRef
Known GenesNCOR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1118928
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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