A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1533666



Internal ID12696787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102868104..102868202hg38UCSC Ensembl
chr12:103261882..103261980hg19UCSC Ensembl
chr12:101786012..101786110hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3958468
SamplesHuRef
Known GenesPAH
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1533666
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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