A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv126e55



Internal ID22761076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45573674..45616172hg38UCSC Ensembl
chr17:43651040..43693538hg19UCSC Ensembl
chr17:41006823..41049321hg18UCSC Ensembl
chr17:41006823..41049321hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3842499
hg1942499
hg1842499
hg1742499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2751683, esv35162, esv2751684
SamplesBEC_603, NA10859, BEC_348
Known GenesLOC644172
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)dgv126e55
Frequency
Sample Size771
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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