A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1261959



Internal ID12078396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:8640892..8640892hg38UCSC Ensembl
chr16:8734749..8734749hg19UCSC Ensembl
chr16:8642250..8642250hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38156
hg19156
hg18156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4122232
SamplesHuRef
Known GenesMETTL22
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1261959
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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