A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577329



Internal ID7048711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196721366..196721366hg38UCSC Ensembl
chr2:197586090..197586090hg19UCSC Ensembl
chr2:197294335..197294335hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992569
Supporting Variants
SamplesHuRef
Known GenesCCDC150
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577329
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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