A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997746



Internal ID7063967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:88350778..88351848hg38UCSC Ensembl
Outerchr13:89003033..89004103hg19UCSC Ensembl
Outerchr13:87801034..87802104hg18UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg381071
hg191071
hg181071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565025
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997746
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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