A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978857



Internal ID12979255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20344377..22289825hg38UCSC Ensembl
Innerchr15:20549630..22577776hg19UCSC Ensembl
Innerchr15:18809644..20079140hg18UCSC Ensembl
Innerchr15:18809644..20079140hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381945449
hg192028147
hg181269497
hg171269497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34537
Supporting Variants
SamplesNA12751
Known GenesCT60, 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)essv6978857
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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