A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578826



Internal ID6703522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:307233..307325hg38UCSC Ensembl
chr5:307348..307440hg19UCSC Ensembl
chr5:360348..360440hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3893
hg1993
hg1893
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995455
Supporting Variants
SamplesHuRef
Known GenesAHRR, PDCD6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578826
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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