A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980638



Internal ID12636064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..20741749hg38UCSC Ensembl
Innerchr15:20186408..20947078hg19UCSC Ensembl
Innerchr15:18446422..19207088hg18UCSC Ensembl
Innerchr15:18446422..19207088hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38760595
hg19760671
hg18760667
hg17760667
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34415
Supporting Variants
SamplesNA19239
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980638
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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