A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985484



Internal ID12972840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12383487..12384523hg38UCSC Ensembl
Innerchr8:12240996..12242032hg19UCSC Ensembl
Innerchr8:12285367..12286403hg18UCSC Ensembl
Innerchr8:12285367..12286403hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381037
hg191037
hg181037
hg171037
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752203
Supporting Variants
SamplesBEC_354
Known GenesFAM66A
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985484
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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