A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4037n100



Internal ID20155653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109591601..110226092hg38UCSC Ensembl
chr2:110349178..110983669hg19UCSC Ensembl
chr2:109706467..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38634492
hg19634492
hg18634492
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1013901, nsv1009367
Samples
Known GenesLIMS3, LIMS3L, LIMS3-LOC440895, LINC00116, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1, RGPD5, RGPD6, RGPD8, SEPT10, SOWAHC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4037n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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