A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984213



Internal ID12631180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127632710..127846282hg38UCSC Ensembl
Innerchr8:128644955..128858528hg19UCSC Ensembl
Innerchr8:128714137..128927710hg18UCSC Ensembl
Innerchr8:128714137..128927710hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38213573
hg19213574
hg18213574
hg17213574
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752208
Supporting Variants
SamplesBEC_806
Known GenesMIR1204, MYC
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984213
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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