A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985303



Internal ID12636403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20288172..22288239hg38UCSC Ensembl
Innerchr15:20493425..22576190hg19UCSC Ensembl
Innerchr15:18753439..20077554hg18UCSC Ensembl
Innerchr15:18753439..20077554hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382000068
hg192082766
hg181324116
hg171324116
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751337
Supporting Variants
SamplesSPC_14
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)essv6985303
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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