A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988399



Internal ID12625366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19961836..20689298hg38UCSC Ensembl
Innerchr15:20167089..20894627hg19UCSC Ensembl
Innerchr15:18427103..19183028hg18UCSC Ensembl
Innerchr15:18427103..19183028hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38727463
hg19727539
hg18755926
hg17755926
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751377
Supporting Variants
SamplesBEC_176
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3, NBEAP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988399
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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