A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1554494



Internal ID5684597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:221057..221750hg38UCSC Ensembl
chr7:221057..221750hg19UCSC Ensembl
chr7:316140..316833hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38694
hg19694
hg18694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3915233
SamplesHuRef
Known GenesFAM20C
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1554494
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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