A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1554680



Internal ID12717801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154755503..154755503hg38UCSC Ensembl
chr1:154727979..154727979hg19UCSC Ensembl
chr1:152994603..152994603hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3820773
SamplesHuRef
Known GenesKCNN3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1554680
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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