A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1113079



Internal ID11929517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74791384..74791384hg38UCSC Ensembl
chr17:72787523..72787523hg19UCSC Ensembl
chr17:70299118..70299118hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3896
hg1996
hg1896
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4227503
SamplesHuRef
Known GenesTMEM104
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1113079
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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