A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3670220



Internal ID11744963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180614294..180614294hg38UCSC Ensembl
chr5:180041294..180041294hg19UCSC Ensembl
chr5:179973900..179973900hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1734970
Supporting Variants
SamplesHuRef
Known GenesFLT4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3670220
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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