A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748273



Internal ID5059005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113968800..113969185hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6977660, essv6945216
SamplesSSM029, SSM023
Known GenesLAMP1
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2748273
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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