A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3546530



Internal ID18400920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77376558..77376641hg38UCSC Ensembl
chr10:79136316..79136399hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9745277
Samples
Known GenesKCNMA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3546530
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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