A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7002n54



Internal ID20140426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110086470..110225743hg38UCSC Ensembl
chr2:110844047..110983320hg19UCSC Ensembl
chr2:110201336..110340609hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38139274
hg19139274
hg18139274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582675, nsv582665, nsv582667, nsv582671, nsv582672, nsv582663, nsv582679, nsv582664, nsv582668, nsv582676, nsv582681, nsv582677, nsv582678
Samples
Known GenesLINC00116, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7002n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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