A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3925746



Internal ID11489440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184967921..184968243hg38UCSC Ensembl
chr1:184937053..184937375hg19UCSC Ensembl
chr1:183203676..183203998hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38323
hg19323
hg18323
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1416043
Supporting Variants
SamplesHuRef
Known GenesFAM129A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3925746
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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