A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4034708



Internal ID11727166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77045387..77045387hg38UCSC Ensembl
chr18:74757343..74757343hg19UCSC Ensembl
chr18:72886331..72886331hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1353770
Supporting Variants
SamplesHuRef
Known GenesMBP
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4034708
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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