A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9764044



Internal ID18391604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:343253..343404hg38UCSC Ensembl
Outerchr5:343223..343420hg38UCSC Ensembl
Innerchr5:343368..343519hg19UCSC Ensembl
Outerchr5:343338..343535hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565297
Supporting Variants
Samples
Known GenesAHRR
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9764044
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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