A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981304



Internal ID12973135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20217334..22289825hg38UCSC Ensembl
Innerchr15:20422587..22577776hg19UCSC Ensembl
Innerchr15:18682601..20079140hg18UCSC Ensembl
Innerchr15:18682601..20079140hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382072492
hg192155190
hg181396540
hg171396540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35036
Supporting Variants
SamplesBEC_382
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981304
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