A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11348n54



Internal ID22779243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:53383163..53539245hg38UCSC Ensembl
chr7:53450856..53606938hg19UCSC Ensembl
chr7:53418350..53574432hg18UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38156083
hg19156083
hg18156083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv607014, nsv607016, nsv607011, nsv607015, nsv607012, nsv607013
SamplesHGDP00738, HGDP00041, HGDP00407, HGDP00567, HGDP00098, HGDP00743, HGDP00643, HGDP01172, HGDP00338
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11348n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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