A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566473



Internal ID18767549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113457695..113457860hg38UCSC Ensembl
Outerchr5:113457666..113457872hg38UCSC Ensembl
Innerchr5:112793392..112793557hg19UCSC Ensembl
Outerchr5:112793363..112793569hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765220
Samples
Known GenesMCC
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566473
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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