A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3990n100



Internal ID22790077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91426526..91640635hg38UCSC Ensembl
chr2:91618895..91828661hg19UCSC Ensembl
chr2:90982622..91192388hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38214110
hg19209767
hg18209767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004355, nsv1009324, nsv1002804, nsv1006586, nsv1007649, nsv1005915, nsv999806, nsv1008010, nsv999939, nsv1002899, nsv1012391
Samples
Known GenesLOC654342
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3990n100
Frequency
Sample Size11257
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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