A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982601



Internal ID12975241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20246133..20937612hg38UCSC Ensembl
Innerchr15:20451386..21142941hg19UCSC Ensembl
Innerchr15:18711400..19407600hg18UCSC Ensembl
Innerchr15:18711400..19407600hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38691480
hg19691556
hg18696201
hg17696201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751385
Supporting Variants
SamplesBEC_57
Known GenesCHEK2P2, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982601
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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