A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3616295



Internal ID11798887
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1749261
Supporting Variants
SamplesHuRef
Known GenesMYL12B
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3616295
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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