A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564423



Internal ID6689119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29517095..29521484hg38UCSC Ensembl
Outerchr13:30091232..30095621hg19UCSC Ensembl
Outerchr13:28989232..28993621hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg384390
hg194390
hg184390
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1006674
Supporting Variants
SamplesHuRef
Known GenesSLC7A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564423
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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