A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983121



Internal ID12628162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20344556..22288239hg38UCSC Ensembl
Innerchr15:20549809..22576190hg19UCSC Ensembl
Innerchr15:18809823..20077554hg18UCSC Ensembl
Innerchr15:18809823..20077554hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381943684
hg192026382
hg181267732
hg171267732
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751320
Supporting Variants
SamplesBEC_544
Known GenesCT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983121
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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