A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984332



Internal ID12630136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19981155..22052675hg38UCSC Ensembl
Innerchr15:20186408..22340626hg19UCSC Ensembl
Innerchr15:18446422..19841990hg18UCSC Ensembl
Innerchr15:18446422..19841990hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382071521
hg192154219
hg181395569
hg171395569
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751415
Supporting Variants
SamplesBEC_691
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984332
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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