A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1634500



Internal ID12450934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:67026497..67026551hg38UCSC Ensembl
chr17:65022613..65022667hg19UCSC Ensembl
chr17:62453075..62453129hg18UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3962460
SamplesHuRef
Known GenesCACNG4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1634500
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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