A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1484663



Internal ID12647785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197696227..197696276hg38UCSC Ensembl
chr2:198560951..198561000hg19UCSC Ensembl
chr2:198269196..198269245hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4164962
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1484663
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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