A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003602



Internal ID7068707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:29498816..29502112hg38UCSC Ensembl
Outerchr13:30072953..30076249hg19UCSC Ensembl
Outerchr13:28970953..28974249hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383297
hg193297
hg183297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563529
SamplesHuRef
Known GenesMTUS2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003602
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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