A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1274787



Internal ID5404892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:220973..221036hg38UCSC Ensembl
chr7:220973..221036hg19UCSC Ensembl
chr7:316056..316119hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3888479
SamplesHuRef
Known GenesFAM20C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1274787
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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