A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782893



Internal ID18835664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232354184..232450598hg38UCSC Ensembl
Innerchr2:233218894..233315308hg19UCSC Ensembl
Innerchr2:232927138..233023552hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3896415
hg1996415
hg1896415
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3893570
Supporting Variants
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=19
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782893
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