A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992950



Internal ID7078283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244582910..244582961hg38UCSC Ensembl
chr1:244746212..244746263hg19UCSC Ensembl
chr1:242812835..242812886hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576277
SamplesHuRef
Known GenesC1orf101
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992950
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