A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1749261



Internal ID12565693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3272302..3272302hg38UCSC Ensembl
chr18:3272300..3272300hg19UCSC Ensembl
chr18:3262300..3262300hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3616295
SamplesHuRef
Known GenesMYL12B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1749261
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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