A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979668



Internal ID12633875
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 Variantsesv2751345
Supporting Variants
SamplesNA18594
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)essv6979668
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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