A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582829



Internal ID7054211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36054771..36054838hg38UCSC Ensembl
chr21:37427069..37427136hg19UCSC Ensembl
chr21:36348939..36349006hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004462
Supporting Variants
SamplesHuRef
Known GenesSETD4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582829
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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