A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992009



Internal ID7077683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150718960..150719293hg38UCSC Ensembl
chr1:150691436..150691769hg19UCSC Ensembl
chr1:148958060..148958393hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38334
hg19334
hg18334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568671
SamplesHuRef
Known GenesHORMAD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992009
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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