A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979161



Internal ID12633039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19986488..22264652hg38UCSC Ensembl
Innerchr15:20191741..22552603hg19UCSC Ensembl
Innerchr15:18451755..20053967hg18UCSC Ensembl
Innerchr15:18451755..20053967hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382278165
hg192360863
hg181602213
hg171602213
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34632
Supporting Variants
SamplesNA18501
Known GenesCHEK2P2, CT60, 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)essv6979161
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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