A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1550853



Internal ID12367288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77520215..77520215hg38UCSC Ensembl
chr10:79279973..79279973hg19UCSC Ensembl
chr10:78949979..78949979hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38339
hg19339
hg18339
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4202522
SamplesHuRef
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1550853
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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