A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1008448



Internal ID7073425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112988818..112989150hg38UCSC Ensembl
chr13:113643132..113643464hg19UCSC Ensembl
chr13:112691133..112691465hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38333
hg19333
hg18333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3578350
SamplesHuRef
Known GenesMCF2L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1008448
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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