A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993479



Internal ID7062391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16166169..16166240hg38UCSC Ensembl
chr1:16492664..16492735hg19UCSC Ensembl
chr1:16365251..16365322hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2e180
Supporting Variantsessv3573385
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993479
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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