A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982415



Internal ID12627014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22270557hg38UCSC Ensembl
Innerchr15:20186408..22558508hg19UCSC Ensembl
Innerchr15:18446422..20059872hg18UCSC Ensembl
Innerchr15:18446422..20059872hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382289403
hg192372101
hg181613451
hg171613451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34868
Supporting Variants
SamplesBEC_438
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)essv6982415
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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