A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv241e55



Internal ID22761191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:2378491..2746316hg38UCSC Ensembl
chr8:2322814..2603842hg19UCSC Ensembl
chr8:2310221..2591249hg18UCSC Ensembl
chr8:2310221..2591249hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38367826
hg19281029
hg18281029
hg17281029
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752247, esv2752246, esv2752248, esv2752249, esv2752250
SamplesSPC_113, BEC_668, BEC_11, BEC_665, BEC_705
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv241e55
Frequency
Sample Size771
Observed Gain24
Observed Loss0
Observed Complex0
Frequencyn/a


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