A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581438



Internal ID7052820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168296058..168296121hg38UCSC Ensembl
chr6:168696738..168696801hg19UCSC Ensembl
chr6:168439587..168439650hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv989492
Supporting Variants
SamplesHuRef
Known GenesDACT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581438
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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