A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv208e55



Internal ID20126687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172656276..172752581hg38UCSC Ensembl
chr5:172083279..172179584hg19UCSC Ensembl
chr5:172015884..172112189hg18UCSC Ensembl
chr5:172015884..172112189hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3896306
hg1996306
hg1896306
hg1796306
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34944, esv35050, esv34866
SamplesNA19145, NA19098, NA19137
Known GenesNEURL1B
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)dgv208e55
Frequency
Sample Size771
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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