A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578551



Internal ID7049934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39360046..39361343hg38UCSC Ensembl
chr13:39934183..39935480hg19UCSC Ensembl
chr13:38832183..38833480hg18UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381298
hg191298
hg181298
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv988930
Supporting Variants
SamplesHuRef
Known GenesLHFP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578551
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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