A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1209958



Internal ID12026396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236756848..236757142hg38UCSC Ensembl
chr1:236920148..236920442hg19UCSC Ensembl
chr1:234986771..234987065hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4152591
SamplesHuRef
Known GenesACTN2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1209958
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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