A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779354



Internal ID19179664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113761834..113787887hg38UCSC Ensembl
Innerchr3:113480681..113506734hg19UCSC Ensembl
Innerchr3:114963371..114989424hg18UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3826054
hg1926054
hg1826054
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893764
Supporting Variants
Samples
Known GenesATP6V1A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779354
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