A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981759



Internal ID12972642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20344377..20866706hg38UCSC Ensembl
Innerchr15:20549630..21072035hg19UCSC Ensembl
Innerchr15:18809644..19336725hg18UCSC Ensembl
Innerchr15:18809644..19336725hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38522330
hg19522406
hg18527082
hg17527082
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751374
Supporting Variants
SamplesBEC_335
Known GenesCXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981759
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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