A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1217416



Internal ID12380539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45051723..45051935hg38UCSC Ensembl
chr17:43129091..43129303hg19UCSC Ensembl
chr17:40484617..40484829hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38213
hg19213
hg18213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4026239
SamplesHuRef
Known GenesDCAKD
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1217416
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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