A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1524987



Internal ID12688109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210654048..210654048hg38UCSC Ensembl
chr1:210827392..210827392hg19UCSC Ensembl
chr1:208894015..208894015hg18UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38398
hg19398
hg18398
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3839465
SamplesHuRef
Known GenesHHAT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1524987
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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