A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1489877



Internal ID12306313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88834455..88834455hg38UCSC Ensembl
chr16:88900863..88900863hg19UCSC Ensembl
chr16:87428364..87428364hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38106
hg19106
hg18106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3742208
SamplesHuRef
Known GenesGALNS
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1489877
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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