A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11705n54



Internal ID19003881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147314296..147315362hg38UCSC Ensembl
chr7:147011388..147012454hg19UCSC Ensembl
chr7:146642321..146643387hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381067
hg191067
hg181067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608945, nsv608947, nsv608951, nsv608946, nsv608944
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11705n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss109
Observed Complex0
Frequencyn/a


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