A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000943



Internal ID6713085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:74791323..74791323hg38UCSC Ensembl
chr17:72787462..72787462hg19UCSC Ensembl
chr17:70299057..70299057hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572595
SamplesHuRef
Known GenesTMEM104
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000943
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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