A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3595358



Internal ID12166510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196721367..196721367hg38UCSC Ensembl
chr2:197586091..197586091hg19UCSC Ensembl
chr2:197294336..197294336hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3864
hg1964
hg1864
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1075947
Supporting Variants
SamplesHuRef
Known GenesCCDC150
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3595358
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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