A curated catalogue of human genomic structural variation




Variant Details

Variant: esv35160



Internal ID12644510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981133..22264652hg38UCSC Ensembl
Innerchr15:20186386..22552603hg19UCSC Ensembl
Innerchr15:18446400..20053967hg18UCSC Ensembl
Innerchr15:18446400..20053967hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382283520
hg192366218
hg181607568
hg171607568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv92e55
Supporting Variantsessv6979034, essv6979033, essv6979035
SamplesNA12864
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv35160
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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