A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11289n54



Internal ID20144713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:39979094..40117441hg38UCSC Ensembl
chr7:40018693..40157040hg19UCSC Ensembl
chr7:39985218..40123565hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38138348
hg19138348
hg18138348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606708, nsv606707, nsv606706
Samples1780854393_A
Known GenesCDK13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11289n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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