A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1749908



Internal ID12913026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3788856..3788856hg38UCSC Ensembl
chr17:3692150..3692150hg19UCSC Ensembl
chr17:3638899..3638899hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3884
hg1984
hg1884
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3897472
SamplesHuRef
Known GenesITGAE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1749908
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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