A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550891



Internal ID18405281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:92347875..92348068hg38UCSC Ensembl
Outerchr13:92347861..92348101hg38UCSC Ensembl
Innerchr13:93000128..93000321hg19UCSC Ensembl
Outerchr13:93000114..93000354hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749638
Samples
Known GenesGPC5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550891
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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