A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4103n100



Internal ID22790190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168940550..168968473hg38UCSC Ensembl
chr2:169797060..169824983hg19UCSC Ensembl
chr2:169505306..169533229hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3827924
hg1927924
hg1827924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv999345, nsv1012367, nsv1003689
Samples
Known GenesABCB11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4103n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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