A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3550471



Internal ID18751547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:52784325..52788865hg38UCSC Ensembl
Outerchr13:52783758..52789365hg38UCSC Ensembl
Innerchr13:53358460..53363000hg19UCSC Ensembl
Outerchr13:53357893..53363500hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg385608
hg195608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9749218
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3550471
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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