A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1498080



Internal ID12314516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:133214049..133214049hg38UCSC Ensembl
chr8:134226292..134226292hg19UCSC Ensembl
chr8:134295474..134295474hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg38212
hg19212
hg18212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4007791
SamplesHuRef
Known GenesWISP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1498080
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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