A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1351644



Internal ID12514766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49151091..49151421hg38UCSC Ensembl
chr17:47228453..47228783hg19UCSC Ensembl
chr17:44583452..44583782hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38331
hg19331
hg18331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4084955
SamplesHuRef
Known GenesB4GALNT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1351644
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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