A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782398



Internal ID18821240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1766738..2115791hg38UCSC Ensembl
Innerchr19:1766737..2115790hg19UCSC Ensembl
Innerchr19:1717737..2066790hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38349054
hg19349054
hg18349054
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893156
Supporting Variants
Samples
Known GenesABHD17A, ADAT3, AP3D1, ATP8B3, BTBD2, CSNK1G2, CSNK1G2-AS1, IZUMO4, KLF16, LOC100288123, MIR1909, MKNK2, MOB3A, ONECUT3, REXO1, SCAMP4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=69
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782398
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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