A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4213286



Internal ID11149138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89647560..89647560hg38UCSC Ensembl
chr16:89713968..89713968hg19UCSC Ensembl
chr16:88241469..88241469hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38378
hg19378
hg18378
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1520837
Supporting Variants
SamplesHuRef
Known GenesCHMP1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4213286
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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