A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1560943



Internal ID12377378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216231237..216231237hg38UCSC Ensembl
chr1:216404579..216404579hg19UCSC Ensembl
chr1:214471202..214471202hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3868
hg1968
hg1868
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3978915
SamplesHuRef
Known GenesUSH2A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1560943
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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