A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2130n54



Internal ID22770025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:99755027..99780102hg38UCSC Ensembl
chr11:99625758..99650833hg19UCSC Ensembl
chr11:99130968..99156043hg18UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3825076
hg1925076
hg1825076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556112, nsv556111, nsv556113
Samples1780862310_A
Known GenesCNTN5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2130n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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