A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5261n100



Internal ID22791348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68506273..68620249hg38UCSC Ensembl
chr4:69371991..69485967hg19UCSC Ensembl
chr4:69054586..69168562hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38113977
hg19113977
hg18113977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011238, nsv1013328, nsv1013369, nsv998658, nsv1007533, nsv1002729, nsv1006489, nsv1002434, nsv998004, nsv1000458, nsv1007858, nsv1008030, nsv1002273
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5261n100
Frequency
Sample Size11257
Observed Gain93
Observed Loss0
Observed Complex0
Frequencyn/a


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