A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987325



Internal ID12978615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..20866706hg38UCSC Ensembl
Innerchr15:20186408..21072035hg19UCSC Ensembl
Innerchr15:18446422..19336725hg18UCSC Ensembl
Innerchr15:18446422..19336725hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38885552
hg19885628
hg18890304
hg17890304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34936
Supporting Variants
SamplesNA11832
Known GenesCHEK2P2, CXADRP2, 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)essv6987325
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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