A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv217e55



Internal ID20126696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167823607..168226390hg38UCSC Ensembl
chr6:168224287..168627070hg19UCSC Ensembl
chr6:167967136..168369919hg18UCSC Ensembl
chr6:168042843..168445626hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38402784
hg19402784
hg18402784
hg17402784
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34861, esv2752100, esv2752101
SamplesNA12815, BEC_705, BEC_395
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4, MLLT4-AS1
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)dgv217e55
Frequency
Sample Size771
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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