A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993894



Internal ID6729849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30122419..30124868hg38UCSC Ensembl
Outerchr16:30133740..30136189hg19UCSC Ensembl
Outerchr16:30041241..30043690hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382631
hg192631
hg182631
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563829
SamplesHuRef
Known GenesMAPK3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993894
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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