A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997684



Internal ID6733625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13894977..13895273hg38UCSC Ensembl
chr5:13895086..13895382hg19UCSC Ensembl
chr5:13948086..13948382hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38297
hg19297
hg18297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575815
SamplesHuRef
Known GenesDNAH5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997684
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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