A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982258



Internal ID12626775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22133812hg38UCSC Ensembl
Innerchr15:20186408..22421763hg19UCSC Ensembl
Innerchr15:18446422..19923127hg18UCSC Ensembl
Innerchr15:18446422..19923127hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382152658
hg192235356
hg181476706
hg171476706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34815
Supporting Variants
SamplesBEC_408
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982258
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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