A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4038n100



Internal ID20155654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109946455..110226092hg38UCSC Ensembl
chr2:110704032..110983669hg19UCSC Ensembl
chr2:110061321..110340958hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38279638
hg19279638
hg18279638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1011659, nsv998768
Samples
Known GenesLIMS3-LOC440895, LINC00116, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4038n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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