A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550338



Internal ID18751414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38702601..38702659hg38UCSC Ensembl
chr13:39276738..39276796hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749085
Samples
Known GenesFREM2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550338
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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