A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988444



Internal ID12625912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20498286..22869764hg19UCSC Ensembl
Innerchr15:18758300..20421205hg18UCSC Ensembl
Innerchr15:18758300..20421205hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg192371479
hg181662906
hg171662906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751362
Supporting Variants
SamplesBEC_330
Known GenesCT60, CXADRP2, GOLGA6L1, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3, TUBGCP5
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988444
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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