A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988780



Internal ID12630038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20246097..22472558hg38UCSC Ensembl
Innerchr15:20451350..22777875hg19UCSC Ensembl
Innerchr15:18711364..20329239hg18UCSC Ensembl
Innerchr15:18711364..20329239hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382226462
hg192326526
hg181617876
hg171617876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751353
Supporting Variants
SamplesBEC_683
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, 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)essv6988780
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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