A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4016712



Internal ID11745161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222895473..222897966hg38UCSC Ensembl
chr2:223760191..223762684hg19UCSC Ensembl
chr2:223468435..223470928hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg382494
hg192494
hg182494
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1240242
Supporting Variants
SamplesHuRef
Known GenesACSL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4016712
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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