A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006212



Internal ID6718332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62686156..62686494hg38UCSC Ensembl
chr1:63151827..63152165hg19UCSC Ensembl
chr1:62924415..62924753hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38339
hg19339
hg18339
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3581424
SamplesHuRef
Known GenesDOCK7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006212
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer