A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1614926



Internal ID12778046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174320517..174320517hg38UCSC Ensembl
chr4:175241668..175241668hg19UCSC Ensembl
chr4:175478243..175478243hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg382637
hg192637
hg182637
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4015737
SamplesHuRef
Known GenesCEP44
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1614926
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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