A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11268n54



Internal ID22779163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:31550984..31552257hg38UCSC Ensembl
chr7:31590598..31591871hg19UCSC Ensembl
chr7:31557123..31558396hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381274
hg191274
hg181274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606586, nsv606580, nsv606588, nsv606576, nsv606584, nsv606574, nsv606582, nsv606583, nsv606575, nsv606587, nsv606579
Samples
Known GenesCCDC129
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11268n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss75
Observed Complex0
Frequencyn/a


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