A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576688



Internal ID7048070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58384171..58390279hg38UCSC Ensembl
chr5:57679998..57686106hg19UCSC Ensembl
chr5:57715755..57721863hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg386109
hg196109
hg186109
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1004819
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576688
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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