A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1522450



Internal ID12685572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82970669..82970669hg38UCSC Ensembl
chr17:80928545..80928545hg19UCSC Ensembl
chr17:78521834..78521834hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4042291
SamplesHuRef
Known GenesB3GNTL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1522450
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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