A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7487767



Internal ID10419363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1051371..1051420hg38UCSC Ensembl
chr19:1051370..1051419hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3218200
Supporting Variants
SamplesHuRef
Known GenesABCA7
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7487767
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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