A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3568397



Internal ID6693093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41411883..41411968hg38UCSC Ensembl
chr5:41411985..41412070hg19UCSC Ensembl
chr5:41447742..41447827hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001467
Supporting Variants
SamplesHuRef
Known GenesPLCXD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3568397
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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