A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1288n100



Internal ID22787375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120368253..120405664hg38UCSC Ensembl
chr11:120238962..120276373hg19UCSC Ensembl
chr11:119744172..119781583hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3837412
hg1937412
hg1837412
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1047982, nsv1050709
Samples
Known GenesARHGEF12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1288n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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