A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4165209



Internal ID11101061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:16026480..16026480hg38UCSC Ensembl
chr16:16120337..16120337hg19UCSC Ensembl
chr16:16027838..16027838hg18UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg38955
hg19955
hg18955
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1033070
Supporting Variants
SamplesHuRef
Known GenesABCC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4165209
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer