A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3579106



Internal ID7050488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246939710..246940673hg38UCSC Ensembl
chr1:247103012..247103975hg19UCSC Ensembl
chr1:245169635..245170598hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38964
hg19964
hg18964
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005990
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3579106
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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