A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3565836



Internal ID18420226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:39374244..39374370hg38UCSC Ensembl
Outerchr5:39374239..39374375hg38UCSC Ensembl
Innerchr5:39374346..39374472hg19UCSC Ensembl
Outerchr5:39374341..39374477hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764583
Samples
Known GenesDAB2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3565836
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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