A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3992n100



Internal ID22790079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91426526..91751200hg38UCSC Ensembl
chr2:91618895..91939226hg19UCSC Ensembl
chr2:90982622..91302953hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38324675
hg19320332
hg18320332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1006389, nsv1010328, nsv998706, nsv1003648, nsv1000105, nsv998575, nsv1010194
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)dgv3992n100
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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