A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004185



Internal ID7069286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3788855..3788855hg38UCSC Ensembl
chr17:3692149..3692149hg19UCSC Ensembl
chr17:3638898..3638898hg18UCSC 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 Variantsessv3574727
SamplesHuRef
Known GenesITGAE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004185
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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