A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11136n54



Internal ID20144560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1523105..1543652hg38UCSC Ensembl
chr7:1562741..1583288hg19UCSC Ensembl
chr7:1529267..1549814hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3820548
hg1920548
hg1820548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv605822, nsv605823
Samples
Known GenesMAFK, TMEM184A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11136n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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