A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569353



Internal ID6694049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168055324..168056496hg38UCSC Ensembl
chr1:168024562..168025734hg19UCSC Ensembl
chr1:166291186..166292358hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381173
hg191173
hg181173
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996972
Supporting Variants
SamplesHuRef
Known GenesDCAF6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569353
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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