A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980977



Internal ID12982382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20246097..22199721hg38UCSC Ensembl
Innerchr15:20451350..22487672hg19UCSC Ensembl
Innerchr15:18711364..19989036hg18UCSC Ensembl
Innerchr15:18711364..19989036hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381953625
hg192036323
hg181277673
hg171277673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35155
Supporting Variants
SamplesNA19160
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980977
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