A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573548



Internal ID6698244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94773925..94774245hg38UCSC Ensembl
chr10:47088378..47088705hg19UCSC Ensembl
chr10:46508384..46508711hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38321
hg19328
hg18328
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000185
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573548
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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