A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1772285



Internal ID12588717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124439421..124439421hg38UCSC Ensembl
chr12:124923967..124923967hg19UCSC Ensembl
chr12:123489920..123489920hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38703
hg19703
hg18703
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3773902
SamplesHuRef
Known GenesNCOR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1772285
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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