A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571562



Internal ID6696258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205830537..205833171hg38UCSC Ensembl
chr1:205799665..205802299hg19UCSC Ensembl
chr1:204066288..204068922hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382635
hg192635
hg182635
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009208
Supporting Variants
SamplesHuRef
Known GenesPM20D1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571562
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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