A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983100



Internal ID12628133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20288172..22289825hg38UCSC Ensembl
Innerchr15:20493425..22577776hg19UCSC Ensembl
Innerchr15:18753439..20079140hg18UCSC Ensembl
Innerchr15:18753439..20079140hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382001654
hg192084352
hg181325702
hg171325702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34227
Supporting Variants
SamplesBEC_543
Known GenesCHEK2P2, CT60, 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)essv6983100
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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