A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3943877



Internal ID11471309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:153132..153132hg38UCSC Ensembl
chr16:203131..203131hg19UCSC Ensembl
chr16:143131..143131hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1084861
Supporting Variants
SamplesHuRef
Known GenesHBZ
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3943877
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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