A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1066081



Internal ID11882520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174290437..174290437hg38UCSC Ensembl
chr4:175211588..175211588hg19UCSC Ensembl
chr4:175448163..175448163hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38313
hg19313
hg18313
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4313361
SamplesHuRef
Known GenesCEP44
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1066081
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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