A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3568671



Internal ID7040053
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992009
Supporting Variants
SamplesHuRef
Known GenesHORMAD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3568671
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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