A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1742991



Internal ID12906109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27101471..27101522hg38UCSC Ensembl
chr2:27324339..27324390hg19UCSC Ensembl
chr2:27177843..27177894hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4096132
SamplesHuRef
Known GenesCGREF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1742991
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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