A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4325049



Internal ID11260901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89843760..89843760hg38UCSC Ensembl
chr16:89910168..89910168hg19UCSC Ensembl
chr16:88437669..88437669hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1071043
Supporting Variants
SamplesHuRef
Known GenesSPIRE2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4325049
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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