A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006674



Internal ID6718790
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564423
SamplesHuRef
Known GenesSLC7A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006674
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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