A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7001n54



Internal ID20140425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110072078..110225473hg38UCSC Ensembl
chr2:110829655..110983050hg19UCSC Ensembl
chr2:110186944..110340339hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38153396
hg19153396
hg18153396
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582660, nsv582674, nsv582673
Samples1782681092_A, HGDP00234, HGDP01308, HGDP00587, HGDP01336, HGDP01261, HGDP00594, HGDP01191, 1780862390_A, 1782681316_A, NINDS_236
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)dgv7001n54
Frequency
Sample Size17421
Observed Gain14
Observed Loss6
Observed Complex0
Frequencyn/a


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