A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1212653



Internal ID12375777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118148568..118148720hg38UCSC Ensembl
chr2:118906144..118906296hg19UCSC Ensembl
chr2:118622614..118622766hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38153
hg19153
hg18153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4044838
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1212653
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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