A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983829



Internal ID12976006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..22216247hg38UCSC Ensembl
Innerchr15:20167089..22504198hg19UCSC Ensembl
Innerchr15:18427103..20005562hg18UCSC Ensembl
Innerchr15:18427103..20005562hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382254412
hg192337110
hg181578460
hg171578460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751383
Supporting Variants
SamplesBEC_631
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983829
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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