A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1231e199



Internal ID20124533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:104131745..104134352hg38UCSC Ensembl
chr7:103772192..103774799hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382608
hg192608
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667221, esv2676459
SamplesNA18508, NA20299
Known GenesORC5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv1231e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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