A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3897472



Internal ID11864399
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1749908
Supporting Variants
SamplesHuRef
Known GenesITGAE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3897472
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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