A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987648



Internal ID12636654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22300068hg38UCSC Ensembl
Innerchr15:20167089..22588019hg19UCSC Ensembl
Innerchr15:18427103..20089383hg18UCSC Ensembl
Innerchr15:18427103..20089383hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382338233
hg192420931
hg181662281
hg171662281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751302
Supporting Variants
SamplesSPC_165
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987648
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