A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1215291



Internal ID5345396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:40247664..40247762hg38UCSC Ensembl
chr12:40641466..40641564hg19UCSC Ensembl
chr12:38927733..38927831hg18UCSC Ensembl
Cytoband12q12
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 Variantsessv4325628
SamplesHuRef
Known GenesLRRK2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1215291
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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