A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1299810



Internal ID12462932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:147892503..147892503hg38UCSC Ensembl
chr2:148650072..148650072hg19UCSC Ensembl
chr2:148366542..148366542hg18UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg38305
hg19305
hg18305
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4239612
SamplesHuRef
Known GenesACVR2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1299810
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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