A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25779756



Internal ID19160487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:94890161..94920789hg38UCSC Ensembl
Innerchr4:95811312..95841940hg19UCSC Ensembl
Innerchr4:96030335..96060963hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg3830629
hg1930629
hg1830629
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893994
Supporting Variants
Samples
Known GenesBMPR1B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25779756
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