A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2204n54



Internal ID20135628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134279180..134340635hg38UCSC Ensembl
chr11:134149074..134210529hg19UCSC Ensembl
chr11:133654284..133715739hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3861456
hg1961456
hg1861456
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556607, nsv556600
SamplesHGDP00775, HGDP00205, HGDP01329, HGDP00988, HGDP00230
Known GenesGLB1L2, GLB1L3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2204n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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