A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992302



Internal ID6728264
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576046
SamplesHuRef
Known GenesAP1G1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992302
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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