A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3576046



Internal ID6700742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:71733509..71733518hg38UCSC Ensembl
chr16:71767412..71767421hg19UCSC Ensembl
chr16:70324913..70324922hg18UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3875
hg1975
hg1875
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992302
Supporting Variants
SamplesHuRef
Known GenesAP1G1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3576046
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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