A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569934



Internal ID6694630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222887479..222887797hg38UCSC Ensembl
chr1:223060821..223061139hg19UCSC Ensembl
chr1:221127444..221127762hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38319
hg19319
hg18319
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv998735
Supporting Variants
SamplesHuRef
Known GenesDISP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569934
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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