A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4163573



Internal ID11446111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222616987..222617276hg38UCSC Ensembl
chr2:223481706..223481995hg19UCSC Ensembl
chr2:223189950..223190239hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1232411
Supporting Variants
SamplesHuRef
Known GenesFARSB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4163573
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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