A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv251e55



Internal ID22761201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49502688..49634948hg38UCSC Ensembl
chr8:50415247..50547507hg19UCSC Ensembl
chr8:50577800..50710060hg18UCSC Ensembl
chr8:50577800..50710060hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38132261
hg19132261
hg18132261
hg17132261
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34838, esv34784, esv34964
SamplesNA18970, NA18990, NA18570
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)dgv251e55
Frequency
Sample Size771
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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