A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv16e55



Internal ID20126495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241861796..242169657hg38UCSC Ensembl
chr1:242025098..242332959hg19UCSC Ensembl
chr1:240091721..240399582hg18UCSC Ensembl
chr1:238351139..238659000hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38307862
hg19307862
hg18307862
hg17307862
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750831, esv2750830
SamplesBEC_614, BEC_74
Known GenesEXO1, MAP1LC3C, PLD5
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)dgv16e55
Frequency
Sample Size771
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer