A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3740435



Internal ID11674749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10911138..10911138hg38UCSC Ensembl
chr18:10911136..10911136hg19UCSC Ensembl
chr18:10901136..10901136hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38320
hg19320
hg18320
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1115779
Supporting Variants
SamplesHuRef
Known GenesPIEZO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3740435
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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