A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1199417



Internal ID12015854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77041153..77041472hg38UCSC Ensembl
chr10:78800911..78801230hg19UCSC Ensembl
chr10:78470917..78471236hg18UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38320
hg19320
hg18320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3619303
SamplesHuRef
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1199417
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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