A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980747



Internal ID12625239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20729747..22288239hg38UCSC Ensembl
Innerchr15:20935076..22576190hg19UCSC Ensembl
Innerchr15:19181702..20077554hg18UCSC Ensembl
Innerchr15:19181702..20077554hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg381558493
hg191641115
hg18895853
hg17895853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34533
Supporting Variants
SamplesBEC_131
Known GenesCT60, CXADRP2, 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)essv6980747
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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