A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1679312



Internal ID5809412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168975644..168975644hg38UCSC Ensembl
chr2:169832154..169832154hg19UCSC Ensembl
chr2:169540400..169540400hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3892
hg1992
hg1892
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4340753
SamplesHuRef
Known GenesABCB11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1679312
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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