A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563978



Internal ID7035078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42734560..42744918hg38UCSC Ensembl
Outerchr5:42734662..42745020hg19UCSC Ensembl
Outerchr5:42770419..42780777hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3810359
hg1910359
hg1810359
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999397
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563978
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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