A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv218e55



Internal ID22761168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167903640..168226764hg38UCSC Ensembl
chr6:168304320..168627444hg19UCSC Ensembl
chr6:168047169..168370293hg18UCSC Ensembl
chr6:168122876..168446000hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38323125
hg19323125
hg18323125
hg17323125
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2752108, esv2752111, esv2752107, esv34258, esv2752110, esv2752103, esv2752109, esv2752102, esv34560, esv2752105, esv2752106, esv35125, esv2752104, esv2752112
SamplesBEC_675, SPC_102, NA12802, SPC_83, BEC_661, BEC_817, SPC_38, BEC_535, NA12249, BEC_415, NA06985, SPC_86, BEC_737, BEC_182
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)dgv218e55
Frequency
Sample Size771
Observed Gain62
Observed Loss0
Observed Complex0
Frequencyn/a


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