A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3991n100



Internal ID22790078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91426526..91694856hg38UCSC Ensembl
chr2:91618895..91882882hg19UCSC Ensembl
chr2:90982622..91246609hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38268331
hg19263988
hg18263988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010224, nsv1011017, nsv1011451, nsv1011420, nsv998495, nsv1006232
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)dgv3991n100
Frequency
Sample Size11257
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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