A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985859



Internal ID12637479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42783085..43227007hg38UCSC Ensembl
Innerchr19:43287237..43731159hg19UCSC Ensembl
Innerchr19:47979077..48422999hg18UCSC Ensembl
Innerchr19:47979077..48422999hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38443923
hg19443923
hg18443923
hg17443923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751791
Supporting Variants
SamplesSPC_7
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985859
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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