A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1360970



Internal ID12177406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1092997..1092997hg38UCSC Ensembl
chr16:1142997..1142997hg19UCSC Ensembl
chr16:1082998..1082998hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38560
hg19560
hg18560
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3974220
SamplesHuRef
Known GenesC1QTNF8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1360970
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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