A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1330223



Internal ID12146659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152306185..152307157hg38UCSC Ensembl
chr1:152278661..152279633hg19UCSC Ensembl
chr1:150545285..150546257hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38973
hg19973
hg18973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3639326
SamplesHuRef
Known GenesFLG
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1330223
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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