A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996972



Internal ID6732914
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569353
SamplesHuRef
Known GenesDCAF6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996972
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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